ClinVar Miner

List of variants studied for PCWH syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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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.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.*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.135C>T (p.Ser45=) rs1569171316
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu) rs1932470433
NM_006941.4(SOX10):c.429-12A>G rs753723642
NM_006941.4(SOX10):c.746T>A (p.Leu249Gln) rs886057495

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