ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.185-3090C>T rs1569231336
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg) rs1821581008
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
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.2736G>T (p.Trp912Cys)
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
NM_003070.5(SMARCA2):c.3457-2A>T rs1823192606
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) rs863224921
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814

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