ClinVar Miner

List of variants studied for Waardenburg syndrome type 2 by Kasturba Medical College,Manipal University

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000248.3(MITF):c.676G>T (p.Glu226Ter)
NM_000248.3(MITF):c.710+1G>A rs1559749017
NM_000248.3(MITF):c.718C>G (p.Arg240Gly) rs1559751245
NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_006941.3(SOX10):c.415G>T (p.Gly139Cys) rs1569171143

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