List of variants in gene combination POLR2F, SOX10 reported as uncertain significance for PCWH syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
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.*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.768G>A (p.Pro256=)	rs773109683	0.00005
NM_006941.4(SOX10):c.*327G>A	rs1473316530	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.1111G>A (p.Asp371Asn)	rs551334981	0.00002
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.-9G>A	rs1237344324
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)	rs551334981
NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser)	rs1397403248
NM_006941.4(SOX10):c.135C>T (p.Ser45=)	rs1569171316
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.334A>G (p.Met112Val)	rs1555939439
NM_006941.4(SOX10):c.746T>A (p.Leu249Gln)	rs886057495

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