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:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NC_000001.10:g.110150279_110152297del
NC_000001.10:g.110150279_110152297dup
NM_005272.3(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_005272.3(GNAT2):c.285_291delTGCTGAAinsCTGTAT (p.Ala96Cysfs)
NM_005272.3(GNAT2):c.313C>T (p.Arg105Ter)
NM_005272.3(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005272.3(GNAT2):c.503dup (p.Ser170Terfs)
NM_005272.3(GNAT2):c.591-2A>C
NM_005272.3(GNAT2):c.720+2T>C
NM_005272.3(GNAT2):c.803_806dup (p.Lys270Glnfs)
NM_005272.3:c.955delA

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