ClinVar Miner

List of variants in gene SMARCA4 reported as likely pathogenic for Coffin-Siris syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 34
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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.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg) rs2145937134
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys) rs2145938426
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.1702G>C (p.Val568Leu) rs1431755388
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter) rs2146359668
NM_003072.5(SMARCA4):c.2506-2A>G
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln) rs2146373452
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.2678T>G (p.Leu893Arg)
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
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.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
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.3275T>G (p.Leu1092Arg) rs2146543069
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala) rs2146600868
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
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.3818A>G (p.His1273Arg) rs1600393629
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049

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