ClinVar Miner

List of variants reported as uncertain significance for achromatopsia 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_005272.3(GNAT2):c.461+24G>A rs397515384
NM_005272.3(GNAT2):c.593T>A (p.Met198Lys)
NM_005272.3(GNAT2):c.620A>T (p.Glu207Val)
NM_005272.3(GNAT2):c.623G>C (p.Arg208Thr)
NM_005272.3(GNAT2):c.724C>T (p.Arg242Cys)
NM_005272.3(GNAT2):c.886T>C (p.Tyr296His)
NM_005272.3(GNAT2):c.943G>A (p.Asp315Asn)

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