ClinVar Miner

List of variants in gene SMARCB1 studied for Intellectual disability, autosomal dominant 15

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.628+1487A>G rs185591492 0.00009
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser) rs763872301 0.00001
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs) rs1555881563
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del) rs2146042583
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly) rs886039520
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala) rs1929117173
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln) rs1555877287
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser) rs2146009925
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu) rs2030318562
NM_003073.5(SMARCB1):c.84C>G (p.Ile28Met)
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)

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