The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- No ClinVar Id was directly found from the curated document
Variant: NM_001306179.2:c.675del
CA2580611076
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: b052e6b1-a258-47a4-adb0-21261027cd4a
HGVS expressions
NM_001306179.2:c.675del
NC_000012.12:g.120993668del
CM000674.2:g.120993668del
NC_000012.11:g.121431471del
CM000674.1:g.121431471del
NC_000012.10:g.119915854del
NG_011731.2:g.19923del
ENST00000257555.11:c.675del
ENST00000257555.10:c.675del
ENST00000400024.6:c.675del
ENST00000402929.5:n.810del
ENST00000535955.5:n.43-3823del
ENST00000538626.2:n.191-3823del
ENST00000538646.5:c.527-496del
ENST00000540108.1:c.*115del
ENST00000541395.5:c.675del
ENST00000541924.5:c.675del
ENST00000543427.5:c.633+42del
ENST00000544413.2:c.675del
ENST00000544574.5:c.73-2949del
ENST00000560968.5:c.818del
ENST00000615446.4:c.-257-2594del
ENST00000617366.4:c.586+89del
NM_000545.5:c.675del
NM_000545.6:c.675del
NM_001306179.1:c.675del
NM_000545.8:c.675del
Evidence submitted by expert panel
Approved on: 2024-01-22
Published on: 2024-01-22
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