List of variants reported as likely pathogenic for Waardenburg syndrome by Invitae

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000003.11:g.(?_69987065)_(69997137_?)del
NM_001354604.2(MITF):c.660_666+6del
NM_001354604.2(MITF):c.666+1G>A	rs1246772999
NM_001354604.2(MITF):c.762+1G>A
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)	rs1553704097
NM_001354604.2(MITF):c.953_955+3del
NM_001354604.2(MITF):c.956-2A>G	rs2066399731

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