The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
Variant: NM_001306179.2:c.864dup
CA916079828
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 847fd8e2-c89b-4c9e-8ae7-9c612e62e5b5
HGVS expressions
NM_001306179.2:c.864dup
NC_000012.12:g.120994314dup
CM000674.2:g.120994314dup
NC_000012.11:g.121432117dup
CM000674.1:g.121432117dup
NC_000012.10:g.119916500dup
NG_011731.2:g.20569dup
ENST00000257555.11:c.864dup
ENST00000257555.10:c.864dup
ENST00000400024.6:c.864dup
ENST00000402929.5:n.999dup
ENST00000535955.5:n.43-3177dup
ENST00000538626.2:n.191-3177dup
ENST00000538646.5:c.677dup
ENST00000540108.1:c.*304dup
ENST00000541395.5:c.864dup
ENST00000541924.5:c.713+608dup
ENST00000543427.5:c.633+688dup
ENST00000544413.2:c.864dup
ENST00000544574.5:c.73-2303dup
ENST00000560968.5:n.893+114dup
ENST00000615446.4:c.-257-1948dup
ENST00000617366.4:c.586+735dup
NM_000545.5:c.864dup
NM_000545.6:c.864dup
NM_001306179.1:c.864dup
NM_000545.8:c.864dup
Evidence submitted by expert panel
Approved on: 2022-04-15
Published on: 2022-07-12
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