ClinVar Miner

List of variants reported as pathogenic for achromatopsia by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564
NM_145200.4(CABP4):c.646C>T (p.Arg216Ter) rs150115958

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