ClinVar Miner

List of variants in gene combination POLR2F, SOX10 reported as uncertain significance for Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

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Total variants: 22
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HGVS dbSNP
NM_006941.3(SOX10):c.*1179G>A rs749495956
NM_006941.3(SOX10):c.*158A>G rs886057494
NM_006941.3(SOX10):c.*643A>G rs886057493
NM_006941.3(SOX10):c.*712G>T rs377420828
NM_006941.3(SOX10):c.-63A>G rs886057496
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_006941.4(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.1244C>T (p.Ser415Leu)
NM_006941.4(SOX10):c.135C>T (p.Ser45=)
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)
NM_006941.4(SOX10):c.918C>T (p.His306=) rs200226880
NM_006941.4(SOX10):c.976G>A (p.Val326Met)

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