ClinVar Miner

List of variants reported as likely pathogenic for Nicolaides-Baraitser syndrome

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Total variants: 10
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HGVS dbSNP
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) rs797045974
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) rs863224921
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003159.2(CDKL5):c.2810G>A (p.Cys937Tyr) rs1569231336

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