ClinVar Miner

List of variants in gene SMARCA4 reported as likely pathogenic

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NC_000019.9:g.(?_11168921)_(11169575_?)dup
NM_003072.5(SMARCA4):c.102_114dup (p.Ala39fs)
NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)
NM_003072.5(SMARCA4):c.1101_1119-550del rs2086204386
NM_003072.5(SMARCA4):c.1119-2A>C rs1568430280
NM_003072.5(SMARCA4):c.1245+1G>A
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1420-1G>T
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg) rs2145937134
NM_003072.5(SMARCA4):c.1429A>G (p.Asn477Asp) rs2086880392
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys) rs2145938426
NM_003072.5(SMARCA4):c.1615C>G (p.Arg539Gly) rs2087029320
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu) rs2145970607
NM_003072.5(SMARCA4):c.1658T>G (p.Leu553Arg) rs2145971047
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met) rs1600082359
NM_003072.5(SMARCA4):c.1702G>C (p.Val568Leu) rs1431755388
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs) rs2087041072
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_003072.5(SMARCA4):c.1762-2A>G rs2087063244
NM_003072.5(SMARCA4):c.1813-1G>C
NM_003072.5(SMARCA4):c.1943+1G>A rs2087817491
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2002-1G>A rs2146189762
NM_003072.5(SMARCA4):c.2002-2A>G rs1568462513
NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)
NM_003072.5(SMARCA4):c.2124-2A>G rs2088710706
NM_003072.5(SMARCA4):c.2143G>A (p.Asp715Asn) rs1131691371
NM_003072.5(SMARCA4):c.2194T>C (p.Tyr732His)
NM_003072.5(SMARCA4):c.2195A>G (p.Tyr732Cys)
NM_003072.5(SMARCA4):c.222+1G>T
NM_003072.5(SMARCA4):c.2263A>G (p.Lys755Glu) rs2146238910
NM_003072.5(SMARCA4):c.2274+1G>C rs867740591
NM_003072.5(SMARCA4):c.2274+1G>T
NM_003072.5(SMARCA4):c.2275-1G>C
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.2350G>T (p.Gly784Trp) rs2146279050
NM_003072.5(SMARCA4):c.2438+1G>A rs1555774786
NM_003072.5(SMARCA4):c.2438+1G>C
NM_003072.5(SMARCA4):c.2438+1G>T rs1555774786
NM_003072.5(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met) rs2089620653
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter) rs2146359668
NM_003072.5(SMARCA4):c.2463G>C (p.Glu821Asp)
NM_003072.5(SMARCA4):c.2503_2505+6del
NM_003072.5(SMARCA4):c.2506-2A>G
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln) rs2146373452
NM_003072.5(SMARCA4):c.2593A>G (p.Lys865Glu) rs1057524208
NM_003072.5(SMARCA4):c.2617-1G>A rs1600277713
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser) rs1568486679
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2672G>A (p.Cys891Tyr) rs1555778709
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
NM_003072.5(SMARCA4):c.2681C>G (p.Thr894Arg)
NM_003072.5(SMARCA4):c.2681C>T (p.Thr894Met) rs2089893983
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu) rs778175819
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser) rs2146419846
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.2806T>A (p.Cys936Ser) rs1555778812
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg) rs1555778830
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2852G>C (p.Gly951Ala)
NM_003072.5(SMARCA4):c.2859+1G>C rs797044856
NM_003072.5(SMARCA4):c.2860-1G>A rs1060502102
NM_003072.5(SMARCA4):c.2860-2A>G rs2146451944
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) rs1085307769
NM_003072.5(SMARCA4):c.2900G>C (p.Arg967Pro) rs1085307769
NM_003072.5(SMARCA4):c.2932C>G (p.Arg978Gly) rs1064796254
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) rs769308802
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.2974-2A>G rs2146471651
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
NM_003072.5(SMARCA4):c.3070A>G (p.Lys1024Glu) rs1057524559
NM_003072.5(SMARCA4):c.3081+1G>T rs1600301361
NM_003072.5(SMARCA4):c.3095C>A (p.Thr1032Asn)
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His) rs2146497910
NM_003072.5(SMARCA4):c.3216-1G>T rs1568498107
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003072.5(SMARCA4):c.3275T>G (p.Leu1092Arg) rs2146543069
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003072.5(SMARCA4):c.3380A>G (p.Asp1127Gly) rs1057521113
NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr) rs2074872521
NM_003072.5(SMARCA4):c.3443_3448delinsGGC (p.Glu1148_Phe1150delinsGlyLeu) rs1064794535
NM_003072.5(SMARCA4):c.3469C>T (p.Arg1157Trp)
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala) rs2146600868
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.3546+2T>C
NM_003072.5(SMARCA4):c.355+1G>A
NM_003072.5(SMARCA4):c.355+2T>G rs1599942345
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.356-2A>G
NM_003072.5(SMARCA4):c.3577A>G (p.Ile1193Val) rs1555784468
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3641T>C (p.Ile1214Thr) rs1064796885
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
NM_003072.5(SMARCA4):c.3724G>A (p.Glu1242Lys) rs1555784586
NM_003072.5(SMARCA4):c.3728G>A (p.Arg1243Gln) rs1064795161
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys) rs2146654092
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003072.5(SMARCA4):c.3774+2T>A rs1475054297
NM_003072.5(SMARCA4):c.3774+2T>C rs1475054297
NM_003072.5(SMARCA4):c.3774+2T>G
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg) rs1600393629
NM_003072.5(SMARCA4):c.3951+1G>A rs1555785054
NM_003072.5(SMARCA4):c.3951+2T>C rs1555785056
NM_003072.5(SMARCA4):c.3952-1G>A rs1600405252
NM_003072.5(SMARCA4):c.3952-2A>G rs1308562238
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His) rs1555785361
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049
NM_003072.5(SMARCA4):c.4243C>T (p.Arg1415Ter) rs878854224
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter) rs758517117
NM_003072.5(SMARCA4):c.4636-1G>A rs1290351732
NM_003072.5(SMARCA4):c.4704_4713del (p.Asp1568fs) rs1600644179
NM_003072.5(SMARCA4):c.4769-2A>G
NM_003072.5(SMARCA4):c.535C>T (p.Gln179Ter) rs1469271544
NM_003072.5(SMARCA4):c.761-2A>T rs1479379455
NM_003072.5(SMARCA4):c.859+1G>T rs2145798387
NM_003072.5(SMARCA4):c.87_222+48del rs2145722767

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