List of variants reported as pathogenic for Wiedemann-Steiner syndrome by Mendelics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs)	rs1555138552
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)	rs782297546
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter)	rs1591381084
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)	rs1131691799
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs)	rs2134286994
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter)	rs1591383060
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs)	rs1591384640
NM_001197104.2(KMT2A):c.502+1G>A	rs1591371152
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs)	rs2134387390
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs)	rs1591282224
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs)	rs1591282615
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter)	rs1385902057
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs)	rs2134397119

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