ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 84 by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp) rs113094436 0.00002
NM_003359.4(UGDH):c.1009G>A (p.Ala337Thr)

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