ClinVar Miner

List of variants studied for Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Otosclerosis 12

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03292
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00668
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=) rs531365419 0.00009
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00007
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu) rs762023872 0.00006
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser) rs200007170 0.00003
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00003
NM_003072.5(SMARCA4):c.719C>T (p.Pro240Leu) rs201600949 0.00003
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962 0.00002
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln) rs1050237 0.00002
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg) rs765139835 0.00002
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=) rs373041389 0.00002
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His) rs867536416 0.00002
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu) rs750891894 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.232T>C (p.Ser78Pro) rs878854207 0.00001
NM_003072.5(SMARCA4):c.2859+3G>T rs2089905213 0.00001
NM_003072.5(SMARCA4):c.3216-3C>T rs1310639053 0.00001
NM_003072.5(SMARCA4):c.3350C>T (p.Ala1117Val) rs755069412 0.00001
NM_003072.5(SMARCA4):c.355+4C>T rs1276835884 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu) rs878854227 0.00001
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu) rs1057523990 0.00001
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln) rs1356932636 0.00001
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln) rs1278313953 0.00001
NM_003072.5(SMARCA4):c.4853G>A (p.Arg1618Gln) rs1029465394 0.00001
NM_003072.5(SMARCA4):c.630G>T (p.Met210Ile) rs1043452739 0.00001
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His) rs878854236 0.00001
NM_003072.5(SMARCA4):c.865A>G (p.Met289Val) rs750547893 0.00001
NC_000023.11:g.11088932_11088935del
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr) rs771509538
NM_003072.5(SMARCA4):c.1030C>T (p.Pro344Ser)
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1324A>C (p.Ser442Arg) rs1600023338
NM_003072.5(SMARCA4):c.1725G>C (p.Gln575His) rs1441370371
NM_003072.5(SMARCA4):c.2109G>T (p.Ala703=) rs376562928
NM_003072.5(SMARCA4):c.239A>G (p.His80Arg) rs2145748661
NM_003072.5(SMARCA4):c.3395C>T (p.Ala1132Val) rs1555783136
NM_003072.5(SMARCA4):c.3436G>T (p.Gly1146Cys) rs200007170
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu) rs1555752859
NM_003072.5(SMARCA4):c.4322A>G (p.Lys1441Arg) rs1555788304
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp) rs1568565971
NM_003072.5(SMARCA4):c.4890C>G (p.Asp1630Glu) rs918621161
NM_003072.5(SMARCA4):c.736C>T (p.Pro246Ser) rs1555753804
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs) rs1165714406
NM_003072.5(SMARCA4):c.881C>T (p.Ala294Val) rs1568426302

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