ClinVar Miner

List of variants reported as pathogenic for achromatopsia 4 by Institute for Ophthalmic Research,University Tuebingen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 11
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HGVS dbSNP
NC_000001.10:g.110150279_110152297dup
NM_005272.4(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_005272.4(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_005272.4(GNAT2):c.303+365_461+974del
NM_005272.4(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005272.4(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_005272.4(GNAT2):c.591-2A>C rs1557918638
NM_005272.4(GNAT2):c.720+2T>C rs1557918544
NM_005272.4(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_005272.4(GNAT2):c.955del (p.Ile319fs) rs1557917535

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