ClinVar Miner

List of variants studied 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: 22
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HGVS dbSNP
NC_000001.10:g.110150279_110152297dup
NM_005272.4(GNAT2):c.107T>G (p.Leu36Arg) rs1240543072
NM_005272.4(GNAT2):c.139A>G (p.Ser47Gly) rs146606352
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.461+24G>A rs397515384
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.593T>A (p.Met198Lys) rs1557918635
NM_005272.4(GNAT2):c.620A>T (p.Glu207Val) rs1557918619
NM_005272.4(GNAT2):c.623G>C (p.Arg208Thr) rs995152260
NM_005272.4(GNAT2):c.720+2T>C rs1557918544
NM_005272.4(GNAT2):c.724C>T (p.Arg242Cys) rs754414120
NM_005272.4(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_005272.4(GNAT2):c.808_810AAG[1] (p.Lys271del)
NM_005272.4(GNAT2):c.886T>C (p.Tyr296His) rs757147586
NM_005272.4(GNAT2):c.937C>T (p.Arg313Ter) rs748981899
NM_005272.4(GNAT2):c.943G>A (p.Asp315Asn) rs950519744
NM_005272.4(GNAT2):c.955del (p.Ile319fs) rs1557917535

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