ClinVar Miner

List of variants reported as uncertain significance for Waardenburg syndrome type 2

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000248.3(MITF):c.666C>A (p.Asp222Glu)
NM_000248.3(MITF):c.668G>A (p.Arg223His) rs763119975
NM_000248.3(MITF):c.676G>A (p.Glu226Lys) rs147682682
NM_000248.3(MITF):c.751G>A (p.Val251Met) rs1271000541
NM_006941.3(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.3(SOX10):c.415G>T (p.Gly139Cys) rs1569171143

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