ClinVar Miner

List of variants in gene SMARCA4 reported as likely benign for Coffin-Siris syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_001128849.1(SMARCA4):c.*25C>T rs189436737
NM_001128849.1(SMARCA4):c.*327T>C rs146968124
NM_001128849.1(SMARCA4):c.*401G>A rs559071626
NM_001128849.1(SMARCA4):c.-43C>T rs574982898
NM_001128849.1(SMARCA4):c.-72C>T rs559144002
NM_001128849.1(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368
NM_001128849.1(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.1(SMARCA4):c.1119-12C>T rs113870824
NM_001128849.1(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_001128849.1(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.1(SMARCA4):c.1557C>T (p.Asn519=) rs2288845
NM_001128849.1(SMARCA4):c.1740A>G (p.Lys580=) rs114391904
NM_001128849.1(SMARCA4):c.1791T>G (p.Pro597=) rs141806282
NM_001128849.1(SMARCA4):c.1944-12C>T rs149763341
NM_001128849.1(SMARCA4):c.2001+8T>G rs112549813
NM_001128849.1(SMARCA4):c.2085C>T (p.Ser695=) rs149342641
NM_001128849.1(SMARCA4):c.223-5C>T rs376775933
NM_001128849.1(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.1(SMARCA4):c.2757C>T (p.Pro919=) rs113955216
NM_001128849.1(SMARCA4):c.2973+14G>A rs372877301
NM_001128849.1(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423
NM_001128849.1(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403
NM_001128849.1(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713
NM_001128849.1(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802
NM_001128849.1(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231
NM_001128849.1(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359
NM_001128849.1(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149
NM_001128849.1(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534
NM_001128849.1(SMARCA4):c.4171-9T>A rs201309716
NM_001128849.1(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962
NM_001128849.1(SMARCA4):c.4267-13A>G rs201298366
NM_001128849.1(SMARCA4):c.4368G>A (p.Pro1456=) rs114882905
NM_001128849.1(SMARCA4):c.4389C>T (p.Arg1463=) rs149670457
NM_001128849.1(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221
NM_001128849.1(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.1(SMARCA4):c.4608C>T (p.Pro1536=) rs145435121
NM_001128849.1(SMARCA4):c.4788C>T (p.Ile1596=) rs746415437
NM_001128849.1(SMARCA4):c.4864+15G>C rs113131294
NM_001128849.1(SMARCA4):c.4968G>A (p.Pro1656=) rs182644267
NM_001128849.1(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.1(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711
NM_001128849.1(SMARCA4):c.747C>T (p.Tyr249=) rs756224211
NM_001128849.1(SMARCA4):c.859+7T>A rs141461778
NM_001128849.1(SMARCA4):c.981A>C (p.Pro327=) rs547268941

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