List of variants reported as pathogenic for Waardenburg syndrome type 2 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)	rs104893747	0.00004
NM_000248.4(MITF):c.33+1G>A	rs1553701477
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro)	rs104893744
NM_001354604.2(MITF):c.1145del (p.Glu382fs)	rs1553705282
NM_001354604.2(MITF):c.763-2A>C	rs1553703612
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)	rs1057519325
NM_001354604.2(MITF):c.956-1G>A	rs1057519327
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	rs104893746
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly)	rs1057519326

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