ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_006941.3(SOX10):c.*475G>A rs139883
NM_006941.3(SOX10):c.*537G>C rs565069012
NM_006941.3(SOX10):c.*711C>T rs60962899
NM_006941.3(SOX10):c.429-12A>G rs753723642
NM_006941.4(SOX10):c.*27G>A
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652
NM_006941.4(SOX10):c.428+10C>G rs201638602
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.927T>C (p.His309=) rs139884

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