ClinVar Miner

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

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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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_001354604.2(MITF):c.*2068C>T rs576 0.33688
NM_001354604.2(MITF):c.*2505C>T rs704246 0.29266
NM_001354604.2(MITF):c.*48T>C rs9863910 0.11996
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_001354604.2(MITF):c.*1248T>C rs2131025 0.07575
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_001354604.2(MITF):c.*824T>A rs114659118 0.02066
NM_001354604.2(MITF):c.*2458G>A rs77962238 0.01521
NM_001354604.2(MITF):c.*1150T>C rs150314710 0.01496
NM_001354604.2(MITF):c.355-1135G>A rs77588960 0.01433
NM_181458.4(PAX3):c.1420+104G>A rs142988099 0.01258
NM_181458.4(PAX3):c.1420+220C>T rs45624434 0.01121
NM_001354604.2(MITF):c.*2170A>G rs78240629 0.01047
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_001354604.2(MITF):c.*2580C>T rs139487027 0.00303
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001354604.2(MITF):c.*836G>T rs558793046 0.00194
NM_001354604.2(MITF):c.*2924C>T rs151043552 0.00174
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_001354604.2(MITF):c.*3033A>G rs139770177 0.00150
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_001354604.2(MITF):c.*379T>C rs552044239 0.00071
NM_001354604.2(MITF):c.*228C>T rs190540926 0.00069
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) rs142263283 0.00050
NM_001354604.2(MITF):c.*1491A>G rs80212793 0.00042
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_001354604.2(MITF):c.*286G>A rs187361634 0.00029
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_001354604.2(MITF):c.*235T>C rs183031244 0.00028
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
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_001354604.2(MITF):c.*2673T>G rs75204045 0.00017
NM_001354604.2(MITF):c.882G>A (p.Ala294=) rs778126895 0.00011
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
NM_006941.4(SOX10):c.*27G>A rs563902004 0.00006
NM_181458.4(PAX3):c.1420+186G>A rs78035924 0.00006
NM_001354604.2(MITF):c.*2868T>C rs529623175 0.00005
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_001354604.2(MITF):c.*447C>A rs546175299 0.00002
NM_001354604.2(MITF):c.*1101G>A rs557878790 0.00001
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.*1270G>A rs137975240
NM_001354604.2(MITF):c.*2029A>T rs571540517
NM_001354604.2(MITF):c.*24G>A rs375847754
NM_001354604.2(MITF):c.*575_*576dup rs59665466
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) rs548265796
NM_006941.4(SOX10):c.429-12A>G rs753723642
NM_181458.4(PAX3):c.1420+55C>T rs186207055

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