List of variants studied for Waardenburg syndrome type 2A by 3billion

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer)	rs2107552061
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)	rs2107478777
NM_001354604.2(MITF):c.899_900del (p.Glu300fs)	rs2107519404
NM_001354604.2(MITF):c.955+1G>T	rs2107519634
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	rs104893746

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