ClinVar Miner

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

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=) rs149874634 0.00051
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.*25C>T rs189436737 0.00034
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00028
NM_003072.5(SMARCA4):c.1245+18C>T rs376247014 0.00027
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=) rs531365419 0.00009
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.1419+5G>A rs199814381 0.00006
NM_003072.5(SMARCA4):c.2438+10C>T rs370782232 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=) rs758438795 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser) rs373590049 0.00004
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=) rs368250779 0.00004
NM_003072.5(SMARCA4):c.372G>A (p.Leu124=) rs780881662 0.00004
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00004
NM_003072.5(SMARCA4):c.4170+5A>G rs749029481 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=) rs369724341 0.00003
NM_003072.5(SMARCA4):c.3874-3T>C rs370679578 0.00003
NM_003072.5(SMARCA4):c.719C>T (p.Pro240Leu) rs201600949 0.00003
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=) rs374167170 0.00002
NM_003072.5(SMARCA4):c.1968T>C (p.Asp656=) rs750161079 0.00002
NM_003072.5(SMARCA4):c.2617-5C>T rs377743250 0.00002
NM_003072.5(SMARCA4):c.3873+6del rs751936459 0.00002
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=) rs373041389 0.00002
NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=) rs757189400 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_003072.5(SMARCA4):c.720G>A (p.Pro240=) rs1023059961 0.00002
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.1533G>A (p.Thr511=) rs1415983739 0.00001
NM_003072.5(SMARCA4):c.1695G>A (p.Thr565=) rs1173206989 0.00001
NM_003072.5(SMARCA4):c.1813-15A>G rs751661108 0.00001
NM_003072.5(SMARCA4):c.2002-4G>A rs746254916 0.00001
NM_003072.5(SMARCA4):c.2157C>T (p.Gly719=) rs756240718 0.00001
NM_003072.5(SMARCA4):c.2505+14A>G rs779882147 0.00001
NM_003072.5(SMARCA4):c.2506-14T>C rs751003991 0.00001
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=) rs767915497 0.00001
NM_003072.5(SMARCA4):c.3081+5G>A rs771818383 0.00001
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=) rs1060504446 0.00001
NM_003072.5(SMARCA4):c.3528C>T (p.Ser1176=) rs573885719 0.00001
NM_003072.5(SMARCA4):c.3546+9G>A rs544551192 0.00001
NM_003072.5(SMARCA4):c.355+9C>T rs767575401 0.00001
NM_003072.5(SMARCA4):c.3951+6C>T rs759241380 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4185C>T (p.Gly1395=) rs889180299 0.00001
NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=) rs759862377 0.00001
NM_003072.5(SMARCA4):c.4912-4C>A rs1555797433 0.00001
NM_003072.5(SMARCA4):c.505C>T (p.Pro169Ser) rs142886157 0.00001
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711 0.00001
NM_003072.5(SMARCA4):c.*34C>G rs780956095
NM_003072.5(SMARCA4):c.1118+7del rs774132615
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.144G>T (p.Gly48=) rs1398193826
NM_003072.5(SMARCA4):c.2109G>T (p.Ala703=) rs376562928
NM_003072.5(SMARCA4):c.2166G>A (p.Gln722=) rs1555773282
NM_003072.5(SMARCA4):c.2850C>A (p.Thr950=) rs141259126
NM_003072.5(SMARCA4):c.3312A>G (p.Gln1104=) rs1600336124
NM_003072.5(SMARCA4):c.3383-5G>T rs762528243
NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=) rs797045983
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003072.5(SMARCA4):c.450A>T (p.Gly150=) rs369026160
NM_003072.5(SMARCA4):c.4872G>T (p.Pro1624=) rs182644267
NM_003072.5(SMARCA4):c.696T>C (p.Pro232=) rs573767517
NM_003072.5(SMARCA4):c.715G>A (p.Gly239Ser) rs761515593

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