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.404del
CA2497030023
Gene: HNF1A
Condition: monogenic diabetes
Inheritance Mode: Autosomal dominant inheritance
UUID: 16475fd8-01fc-44a7-bd03-f07814f30c39
HGVS expressions
NM_001306179.2:c.404del
NC_000012.12:g.120988910del
CM000674.2:g.120988910del
NC_000012.11:g.121426713del
CM000674.1:g.121426713del
NC_000012.10:g.119911096del
NG_011731.2:g.15165del
ENST00000257555.11:c.404del
ENST00000257555.10:c.404del
ENST00000400024.6:c.404del
ENST00000402929.5:n.539del
ENST00000535955.5:n.43-8581del
ENST00000538626.2:n.191-8581del
ENST00000538646.5:c.404del
ENST00000540108.1:c.327-4610del
ENST00000541395.5:c.404del
ENST00000541924.5:c.404del
ENST00000543427.5:c.404del
ENST00000544413.2:c.404del
ENST00000544574.5:c.73-7707del
ENST00000560968.5:n.547del
ENST00000615446.4:c.-257-7352del
ENST00000617366.4:c.404del
NM_000545.5:c.404del
NM_000545.6:c.404del
NM_001306179.1:c.404del
NM_000545.8:c.404del
Evidence submitted by expert panel
Approved on: 2022-07-01
Published on: 2022-07-01
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