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

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Total variants: 14

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HGVS	dbSNP
NM_000248.3(MITF):c.33+5G>C
NM_000248.3(MITF):c.409_410delTTinsCC (p.Leu137Pro)	rs1553702406
NM_000248.3(MITF):c.604G>A (p.Glu202Lys)	rs1553704086
NM_000248.3(MITF):c.632T>C (p.Leu211Pro)	rs1553704097
NM_000248.3(MITF):c.710+4A>C	rs1553704850
NM_000248.3(MITF):c.763C>T (p.Arg255Ter)	rs1057517966
NM_006941.3(SOX10):c.1091delA (p.Gln364Argfs)	rs1555937398
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.428+2T>C
NM_006941.3(SOX10):c.430delC (p.Leu144Cysfs)	rs1555938422
NM_006941.3(SOX10):c.44_62del (p.Val15Alafs)	rs1555939564
NM_198159.2(MITF):c.1021C>G (p.Arg341Gly)
NM_198159.2(MITF):c.649C>T (p.Arg217Ter)	rs1553702006

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