ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_001301130.2(POLR2F):c.293+5240_293+5241del rs577740783
NM_006941.3(SOX10):c.*1179G>A rs749495956
NM_006941.3(SOX10):c.*158A>G rs886057494
NM_006941.3(SOX10):c.*475G>A rs139883
NM_006941.3(SOX10):c.*537G>C rs565069012
NM_006941.3(SOX10):c.*643A>G rs886057493
NM_006941.3(SOX10):c.*711C>T rs60962899
NM_006941.3(SOX10):c.*712G>T rs377420828
NM_006941.3(SOX10):c.*932G>A rs8141371
NM_006941.3(SOX10):c.-63A>G rs886057496
NM_006941.3(SOX10):c.429-12A>G rs753723642
NM_006941.3(SOX10):c.507G>A (p.Pro169=) rs199703563
NM_006941.3(SOX10):c.585C>T (p.Ala195=) rs751780784
NM_006941.3(SOX10):c.746T>A (p.Leu249Gln) rs886057495
NM_006941.3(SOX10):c.906G>A (p.Pro302=) rs774324385
NM_006941.3(SOX10):c.975C>T (p.Ala325=) rs760496644
NM_006941.4(SOX10):c.*27G>A
NM_006941.4(SOX10):c.*327G>A
NM_006941.4(SOX10):c.*568T>A
NM_006941.4(SOX10):c.*830G>C
NM_006941.4(SOX10):c.-166C>T
NM_006941.4(SOX10):c.-29A>G
NM_006941.4(SOX10):c.-9G>A
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn)
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu)
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284
NM_006941.4(SOX10):c.135C>T (p.Ser45=)
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)
NM_006941.4(SOX10):c.428+10C>G rs201638602
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218
NM_006941.4(SOX10):c.918C>T (p.His306=)
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884
NM_006941.4(SOX10):c.976G>A (p.Val326Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.