ClinVar Miner

List of variants reported for Wiedemann-Steiner syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter) rs2134264638
NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs) rs2496913133
NM_001197104.2(KMT2A):c.5363+1G>A rs2134351311

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