ClinVar Miner

List of variants in gene combination GNAT2, LOC129388577 reported as pathogenic for color vision disorder

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) rs1570562309
NM_001377295.2(GNAT2):c.720+2T>C rs1557918544

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