ClinVar Miner

List of variants in gene SMARCC2 reported as uncertain significance for Coffin-Siris syndrome

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001330288.2(SMARCC2):c.2716-3del rs778570250 0.00004
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr) rs772189962 0.00002
NM_001330288.2(SMARCC2):c.640A>G (p.Thr214Ala) rs776717020 0.00002
NM_001330288.2(SMARCC2):c.1744-2A>G rs1025329696 0.00001
NM_001330288.2(SMARCC2):c.2204A>G (p.Lys735Arg) rs1328302930 0.00001
NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe) rs1203017760 0.00001
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp) rs776778840 0.00001
NC_000012.12:g.(56167013_56168930)del
NM_001330288.2(SMARCC2):c.1142-1G>C rs1875550324
NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)
NM_001330288.2(SMARCC2):c.1181A>T (p.Asp394Val)
NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)
NM_001330288.2(SMARCC2):c.1303T>C (p.Tyr435His)
NM_001330288.2(SMARCC2):c.137A>G (p.Asn46Ser) rs1877438087
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala) rs1877434002
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter) rs1877432240
NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)
NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)
NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)
NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro) rs762674487
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn) rs1872594253
NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val) rs1872567850
NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)
NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup) rs1872429981
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser) rs1876933164
NM_001330288.2(SMARCC2):c.770A>G (p.Tyr257Cys)

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