ClinVar Miner

List of variants in gene GNAT2 reported as likely pathogenic for color vision disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001377295.2(GNAT2):c.107T>G (p.Leu36Arg) rs1240543072 0.00001
NM_001377295.2(GNAT2):c.139A>G (p.Ser47Gly) rs146606352 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_001377295.2(GNAT2):c.808AAG[1] (p.Lys271del) rs1268228697
NM_001377295.2(GNAT2):c.821T>C (p.Phe274Ser) rs1649516067

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