ClinVar Miner

List of variants reported as pathogenic 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: 3
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NM_000248.3(MITF):c.710+1G>A rs1559749017
NM_006941.3(SOX10):c.1169C>G (p.Ser390Ter) rs1569167607
NM_198159.3(MITF):c.979G>T (p.Glu327Ter) rs147682682

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