ClinVar Miner

List of variants reported as likely pathogenic for Waardenburg syndrome type 2

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000248.3(MITF):c.33+5G>C rs1236436555
NM_000248.3(MITF):c.409_410delinsCC (p.Leu137Pro) rs1553702406
NM_000248.3(MITF):c.604G>A (p.Glu202Lys) rs1553704086
NM_000248.3(MITF):c.701C>G (p.Ser234Ter) rs1553704841
NM_000248.3(MITF):c.710+4A>C rs1553704850
NM_001301130.2(POLR2F):c.293+6635del rs1555937398
NM_001301130.2(POLR2F):c.294-8020del rs1555938422
NM_001354607.2(MITF):c.884T>C (p.Leu295Pro) rs1553704097
NM_006941.3(SOX10):c.316C>G (p.Arg106Gly) rs1057518656
NM_006941.3(SOX10):c.403A>C (p.Ser135Arg) rs1555939415
NM_006941.3(SOX10):c.44_62del (p.Val15fs) rs1555939564
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)
NM_198159.3(MITF):c.1021C>G (p.Arg341Gly) rs1559751245
NM_198159.3(MITF):c.1066C>T (p.Arg356Ter) rs1057517966
NM_198159.3(MITF):c.649C>T (p.Arg217Ter) rs1553702006

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