ClinVar Miner

List of variants reported for Wiedemann-Steiner syndrome by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) rs2134335014

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