ClinVar Miner

List of variants in gene SMARCA4 reported as likely pathogenic

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Total variants: 48
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HGVS dbSNP
NM_001128849.2(SMARCA4):c.1119-2A>C rs1568430280
NM_001128849.2(SMARCA4):c.2002-2A>G rs1568462513
NM_001128849.2(SMARCA4):c.2143G>A (p.Asp715Asn) rs1131691371
NM_001128849.2(SMARCA4):c.2438+1G>A rs1555774786
NM_001128849.2(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_001128849.2(SMARCA4):c.2593A>G (p.Lys865Glu) rs1057524208
NM_001128849.2(SMARCA4):c.2647G>A (p.Gly883Ser) rs1568486679
NM_001128849.2(SMARCA4):c.2672G>A (p.Cys891Tyr) rs1555778709
NM_001128849.2(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_001128849.2(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_001128849.2(SMARCA4):c.2806T>A (p.Cys936Ser) rs1555778812
NM_001128849.2(SMARCA4):c.2859+1G>C rs797044856
NM_001128849.2(SMARCA4):c.2860-1G>A rs1060502102
NM_001128849.2(SMARCA4):c.2900G>C (p.Arg967Pro) rs1085307769
NM_001128849.2(SMARCA4):c.2932C>G (p.Arg978Gly) rs1064796254
NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_001128849.2(SMARCA4):c.3070A>G (p.Lys1024Glu) rs1057524559
NM_001128849.2(SMARCA4):c.3081+1G>T rs1600301361
NM_001128849.2(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_001128849.2(SMARCA4):c.3216-1G>T rs1568498107
NM_001128849.2(SMARCA4):c.3380A>G (p.Asp1127Gly) rs1057521113
NM_001128849.2(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_001128849.2(SMARCA4):c.3577A>G (p.Ile1193Val) rs1555784468
NM_001128849.2(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001128849.2(SMARCA4):c.3641T>C (p.Ile1214Thr) rs1064796885
NM_001128849.2(SMARCA4):c.3724G>A (p.Glu1242Lys) rs1555784586
NM_001128849.2(SMARCA4):c.3728G>A (p.Arg1243Gln) rs1064795161
NM_001128849.2(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_001128849.2(SMARCA4):c.3774+2T>C rs1475054297
NM_001128849.2(SMARCA4):c.3951+1G>A rs1555785054
NM_001128849.2(SMARCA4):c.3951+2T>C rs1555785056
NM_001128849.2(SMARCA4):c.4266+1G>C rs1060502086
NM_001128849.2(SMARCA4):c.4309C>T (p.Arg1437Trp) rs1057518049
NM_001128849.2(SMARCA4):c.535C>T (p.Gln179Ter) rs1469271544
NM_001128849.3(SMARCA4):c.1943+1G>A
NM_003072.4(SMARCA4):c.3443_3448delinsGGC (p.Glu1148_Phe1150delinsGlyLeu) rs1064794535
NM_003072.4(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750
NM_003072.5(SMARCA4):c.1101_1119-550del
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs)
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2124-2A>G
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr)
NM_003072.5(SMARCA4):c.355+2T>G rs1599942345
NM_003072.5(SMARCA4):c.3873+1G>C rs1600394246
NM_003072.5(SMARCA4):c.3952-1G>A
NM_003072.5(SMARCA4):c.4704_4713del (p.Asp1568fs) rs1600644179
NM_003072.5(SMARCA4):c.761-2A>T rs1479379455

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