ClinVar Miner

List of variants studied for PCWH syndrome

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_006941.4(SOX10):c.*475G>A rs139883 0.58862
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516 0.07056
NM_006941.4(SOX10):c.*932G>A rs8141371 0.03757
NM_006941.4(SOX10):c.*711C>T rs60962899 0.03747
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876 0.03745
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_006941.4(SOX10):c.-166C>T rs548479592 0.00059
NM_006941.4(SOX10):c.*643A>G rs886057493 0.00038
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760 0.00031
NM_006941.4(SOX10):c.428+10C>G rs201638602 0.00026
NM_006941.4(SOX10):c.*158A>G rs886057494 0.00011
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) rs779933527 0.00007
NM_006941.4(SOX10):c.918C>T (p.His306=) rs200226880 0.00007
NM_006941.4(SOX10):c.*27G>A rs563902004 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_006941.4(SOX10):c.768G>A (p.Pro256=) rs773109683 0.00005
NM_006941.4(SOX10):c.*327G>A rs1473316530 0.00004
NM_006941.4(SOX10):c.507G>A (p.Pro169=) rs199703563 0.00004
NM_006941.4(SOX10):c.975C>T (p.Ala325=) rs760496644 0.00004
NM_006941.4(SOX10):c.976G>A (p.Val326Met) rs750224655 0.00004
NM_006941.4(SOX10):c.*1179G>A rs749495956 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn) rs551334981 0.00002
NM_006941.4(SOX10):c.*537G>C rs565069012 0.00001
NM_006941.4(SOX10):c.*568T>A rs1226122613 0.00001
NM_006941.4(SOX10):c.-29A>G rs761658024 0.00001
NM_006941.4(SOX10):c.-63A>G rs886057496 0.00001
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu) rs1348367862 0.00001
NM_006941.4(SOX10):c.585C>T (p.Ala195=) rs751780784 0.00001
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr) rs774135262 0.00001
NM_006941.4(SOX10):c.906G>A (p.Pro302=) rs774324385 0.00001
NM_006941.4(SOX10):c.*1084TC[1] rs577740783
NM_006941.4(SOX10):c.*712G>T rs377420828
NM_006941.4(SOX10):c.*830G>C rs1932094243
NM_006941.4(SOX10):c.-9G>A rs1237344324
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr) rs551334981
NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter) rs483353058
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs) rs1932131665
NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser) rs1397403248
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.135C>T (p.Ser45=) rs1569171316
NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu) rs2145760379
NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa) rs397515368
NM_006941.4(SOX10):c.181G>A (p.Gly61Ser) rs866240813
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu) rs1932470433
NM_006941.4(SOX10):c.207_208del (p.Cys71fs) rs1932469753
NM_006941.4(SOX10):c.267del (p.Met90fs) rs2145777226
NM_006941.4(SOX10):c.334A>G (p.Met112Val) rs1555939439
NM_006941.4(SOX10):c.394G>C (p.Ala132Pro)
NM_006941.4(SOX10):c.395C>G (p.Ala132Gly) rs2145776948
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser) rs886039664
NM_006941.4(SOX10):c.429-12A>G rs753723642
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)
NM_006941.4(SOX10):c.746T>A (p.Leu249Gln) rs886057495
NM_006941.4(SOX10):c.748C>T (p.Gln250Ter) rs74315521
NM_006941.4(SOX10):c.752C>A (p.Ser251Ter) rs74315518
NM_006941.4(SOX10):c.797del (p.Gly266fs) rs397515371
NM_006941.4(SOX10):c.850G>T (p.Glu284Ter) rs2145761680
NM_006941.4(SOX10):c.915del (p.His306fs) rs397515372
NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter) rs74315516
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter) rs1932142815
NM_006941.4(SOX10):c.966dup (p.Ala323fs) rs2145761378

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