ClinVar Miner

List of variants reported as likely benign for Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

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Total variants: 6
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HGVS dbSNP
NM_001301130.2(POLR2F):c.293+5240_293+5241del rs577740783
NM_006941.3(SOX10):c.*932G>A rs8141371
NM_006941.3(SOX10):c.507G>A (p.Pro169=) rs199703563
NM_006941.3(SOX10):c.975C>T (p.Ala325=) rs760496644
NM_006941.4(SOX10):c.122G>T (p.Gly41Val) rs199750760
NM_006941.4(SOX10):c.249C>T (p.Tyr83=) rs73415876

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