ClinVar Miner

List of variants in gene SMARCA4 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
NM_003072.5(SMARCA4):c.2143G>A (p.Asp715Asn) rs1131691371
NM_003072.5(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_003072.5(SMARCA4):c.2593A>G (p.Lys865Glu) rs1057524208
NM_003072.5(SMARCA4):c.2672G>A (p.Cys891Tyr) rs1555778709
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2806T>A (p.Cys936Ser) rs1555778812
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.3070A>G (p.Lys1024Glu) rs1057524559
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.3443_3448delinsGGC (p.Glu1148_Phe1150delinsGlyLeu) rs1064794535
NM_003072.5(SMARCA4):c.3577A>G (p.Ile1193Val) rs1555784468
NM_003072.5(SMARCA4):c.3641T>C (p.Ile1214Thr) rs1064796885
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.3951+1G>A rs1555785054
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049

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