ClinVar Miner

List of variants studied for Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease by OMIM

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Total variants: 6
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NM_001301130.2(POLR2F):c.293+6787G>C rs74315516
NM_001301130.2(POLR2F):c.293+6813del rs397515372
NM_001301130.2(POLR2F):c.293+6974G>T rs74315518
NM_001301130.2(POLR2F):c.293+6978G>A rs74315521
NM_006941.3(SOX10):c.1400_*10delAAAGGGGGCCCT (p.*467Cysext*82) rs397515368
NM_006941.3(SOX10):c.797del (p.Gly266fs) rs397515371

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