ClinVar Miner

List of variants reported as likely benign for Coffin-Siris syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_003072.5(SMARCA4):c.-43C>T rs574982898 0.00275
NM_003072.5(SMARCA4):c.-72C>T rs559144002 0.00190
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=) rs144894118 0.00106
NM_001374828.1(ARID1B):c.5384A>G (p.Asn1795Ser) rs140177120 0.00079
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn) rs374989034 0.00055
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=) rs1450163641 0.00036
NM_003072.5(SMARCA4):c.*25C>T rs189436737 0.00034
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00028
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_001374828.1(ARID1B):c.2379T>C (p.His793=) rs370364530 0.00024
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp) rs139125255 0.00022
NM_001374828.1(ARID1B):c.417C>G (p.Gly139=) rs555625059 0.00013
NM_001374828.1(ARID1B):c.6963G>A (p.Ala2321=) rs754242891 0.00009
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala) rs749315126 0.00003
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu) rs1235258455 0.00001
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=) rs537901478
NM_001374828.1(ARID1B):c.5323A>G (p.Thr1775Ala)
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.6319G>A (p.Glu2107Lys)
NM_001374828.1(ARID1B):c.6723C>T (p.Tyr2241=)
NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro) rs1554247605
NM_003072.5(SMARCA4):c.*34C>G rs780956095

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