ClinVar Miner

List of variants in gene GNAT2 reported as uncertain significance for achromatopsia 4

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_005272.4(GNAT2):c.-131G>A rs532113128
NM_005272.4(GNAT2):c.-88C>G rs886045029
NM_005272.4(GNAT2):c.14C>T (p.Ala5Val) rs199503029
NM_005272.4(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_005272.4(GNAT2):c.427G>A (p.Ala143Thr) rs149421007
NM_005272.4(GNAT2):c.461+24G>A rs397515384
NM_005272.4(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_005272.4(GNAT2):c.609G>T (p.Gly203=) rs551776784
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.672T>C (p.Cys224=) rs201230566
NM_005272.4(GNAT2):c.724C>T (p.Arg242Cys) rs754414120
NM_005272.4(GNAT2):c.886T>C (p.Tyr296His) rs757147586
NM_005272.4(GNAT2):c.928C>T (p.Leu310Phe) rs200883344
NM_005272.4(GNAT2):c.933T>C (p.Asn311=) rs34723289
NM_005272.4(GNAT2):c.943G>A (p.Asp315Asn) rs950519744
NM_005272.5(GNAT2):c.*102C>A
NM_005272.5(GNAT2):c.*50G>C
NM_005272.5(GNAT2):c.213T>G (p.Ala71=)
NM_005272.5(GNAT2):c.243C>G (p.Ile81Met)
NM_005272.5(GNAT2):c.246G>A (p.Leu82=)
NM_005272.5(GNAT2):c.461+10A>T
NM_005272.5(GNAT2):c.591-9T>C
NM_005272.5(GNAT2):c.715G>A (p.Glu239Lys)
NM_005272.5(GNAT2):c.845A>C (p.His282Pro)

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