List of variants studied for Waardenburg syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)	rs760677132	0.00001
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)	rs2137603390
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	rs768126403
NM_001122659.3(EDNRB):c.777del (p.Val260fs)	rs2137610942
NM_001354604.2(MITF):c.1031+1G>A	rs1559749017
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)	rs1559751245
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)	rs147682682
NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)	rs1569167607
NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)	rs1569171143
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)	rs147111779
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)	rs1279989885
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)	rs1559320299
NM_181458.4(PAX3):c.366_367del (p.Asn125fs)	rs2106200406
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)	rs2106074565
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)	rs773779627

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