ClinVar Miner

List of variants reported as likely pathogenic for Wiedemann-Steiner syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)	rs1131691503
NM_001197104.2(KMT2A):c.6158+6T>C	rs1555045177
NM_001197104.2(KMT2A):c.8543T>C (p.Leu2848Pro)	rs1555047266

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