ClinVar Miner

List of variants reported as pathogenic for Wiedemann-Steiner syndrome by Genomic Medicine Lab, University of California San Francisco

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr) rs1085307857
NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter) rs1591373553
NM_001197104.2(KMT2A):c.7597del (p.Glu2533fs) rs2134393031
NM_001197104.2(KMT2A):c.8414_8418del (p.Ser2805fs) rs1591283372
NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs) rs1591373923

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