ClinVar Miner

List of variants in gene GUCY2D reported as likely pathogenic for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1040_1041delTT (p.Phe347Trpfs) rs763890649
NM_000180.3(GUCY2D):c.1433_1442dup (p.Phe482Glyfs)
NM_000180.3(GUCY2D):c.1956+2T>A rs61749758
NM_000180.3(GUCY2D):c.2234del (p.Pro745Leufs)
NM_000180.3(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.3(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034Valfs) rs1555635925
NM_000180.3:c.1391del rs1567958644

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