List of variants reported as benign for Waardenburg syndrome by Illumina Laboratory Services, Illumina

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=)	rs12623857	0.84982
NM_006941.4(SOX10):c.927T>C (p.His309=)	rs139884	0.68861
NM_006941.4(SOX10):c.*475G>A	rs139883	0.58862
NM_181458.4(PAX3):c.1174-10G>C	rs2855268	0.11848
NM_006941.4(SOX10):c.18C>T (p.Asp6=)	rs149435516	0.07056
NM_006941.4(SOX10):c.*711C>T	rs60962899	0.03747
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	rs2234675	0.02573
NM_181458.4(PAX3):c.1420+104G>A	rs142988099	0.01258
NM_181458.4(PAX3):c.1420+220C>T	rs45624434	0.01121
NM_181458.4(PAX3):c.156C>G (p.Pro52=)	rs28945092	0.01003
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)	rs116473352	0.00287
NM_181458.4(PAX3):c.873C>T (p.Pro291=)	rs141545923	0.00170
NM_006941.4(SOX10):c.822C>T (p.Gly274=)	rs147334218	0.00153
NM_006941.4(SOX10):c.753G>A (p.Ser251=)	rs376907937	0.00033
NM_181458.4(PAX3):c.321+10C>A	rs140960868	0.00029
NM_181458.4(PAX3):c.807C>T (p.Asn269=)	rs45501393	0.00027
NM_006941.4(SOX10):c.428+10C>G	rs201638602	0.00026
NM_181458.4(PAX3):c.126C>A (p.Gly42=)	rs369680052	0.00026
NM_181458.4(PAX3):c.-205C>T	rs565554258	0.00020
NM_181458.4(PAX3):c.-359G>T	rs45501095	0.00019
NM_006941.4(SOX10):c.*27G>A	rs563902004	0.00006
NM_181458.4(PAX3):c.1420+186G>A	rs78035924	0.00006
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)	rs747377284	0.00003
NM_006941.4(SOX10):c.*537G>C	rs565069012	0.00001
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)	rs151199924	0.00001
NM_001354604.2(MITF):c.575_576dup	rs59665466
NM_006941.4(SOX10):c.429-12A>G	rs753723642
NM_181458.4(PAX3):c.1420+55C>T	rs186207055

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