ClinVar Miner

List of variants in gene GNAT2 reported as likely pathogenic for achromatopsia 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
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.481C>T (p.Arg161Ter) rs745308973
NM_005272.4(GNAT2):c.808_810AAG[1] (p.Lys271del)
NM_005272.4(GNAT2):c.937C>T (p.Arg313Ter) rs748981899

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