ClinVar Miner

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

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
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_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_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_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_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_006268.5(DPF2):c.302-11C>T rs373181445 0.00038
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_003072.5(SMARCA4):c.1245+18C>T rs376247014 0.00027
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_006015.6(ARID1A):c.1803+9T>C rs371726505 0.00025
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_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_001374828.1(ARID1B):c.417C>G (p.Gly139=) rs555625059 0.00013
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_001374828.1(ARID1B):c.6963G>A (p.Ala2321=) rs754242891 0.00009
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
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_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.4170+5A>G rs749029481 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala) rs749315126 0.00003
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_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
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.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_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu) rs1235258455 0.00001
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
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_006015.6(ARID1A):c.3702C>T (p.Gly1234=) rs376672377 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
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.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
NM_003076.5(SMARCD1):c.203G>A (p.Arg68Gln)
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.5015T>G (p.Val1672Gly) rs749291779
NM_006015.6(ARID1A):c.5299_5301delinsCTT (p.Glu1767Leu)
NM_006015.6(ARID1A):c.6612C>T (p.Ala2204=)

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