List of variants studied for Waardenburg syndrome type 4B

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)	rs11570351	0.00164
NM_207034.3(EDN3):c.426G>A (p.Ala142=)	rs187049336	0.00035
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)	rs372958987	0.00009
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)	rs374697035	0.00006
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	rs745795470	0.00002
NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs)	rs1568823517
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)	rs267606779
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)	rs773779627
NM_207034.3(EDN3):c.334C>A (p.His112Asn)	rs977075341
NM_207034.3(EDN3):c.335A>G (p.His112Arg)	rs267606778
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)	rs74315384
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)	rs74315385
NM_207034.3(EDN3):c.565dup (p.Thr189fs)	rs11570344

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