ClinVar Miner

List of variants in gene SMARCA2 studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.4360-79A>G rs2281786 0.68018
NM_003070.5(SMARCA2):c.4253+40G>C rs3793511 0.45181
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_003070.5(SMARCA2):c.1347+16_1347+17insT rs150124430 0.12134
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_003070.5(SMARCA2):c.*698T>C rs45616134 0.03565
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_003070.5(SMARCA2):c.*431G>A rs17387924 0.02045
NM_003070.5(SMARCA2):c.*716A>G rs1061478 0.01921
NM_003070.5(SMARCA2):c.2992-8G>A rs77406154 0.01836
NM_003070.5(SMARCA2):c.2770-7C>G rs114448411 0.01734
NM_003070.5(SMARCA2):c.*620T>C rs7048532 0.01641
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=) rs62639301 0.00696
NM_003070.5(SMARCA2):c.*138C>T rs75720779 0.00625
NM_003070.5(SMARCA2):c.*726T>C rs28374302 0.00597
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_003070.5(SMARCA2):c.*181C>T rs180701505 0.00218
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_003070.5(SMARCA2):c.2349-3T>C rs371183012 0.00110
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=) rs143522467 0.00088
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=) rs184913034 0.00073
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu) rs144110632 0.00068
NM_003070.5(SMARCA2):c.4737+13G>A rs149380449 0.00060
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_003070.5(SMARCA2):c.1746+10C>T rs140722679 0.00043
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003070.5(SMARCA2):c.459G>A (p.Pro153=) rs375996388 0.00022
NM_003070.5(SMARCA2):c.3685-6C>A rs201731141 0.00021
NM_003070.5(SMARCA2):c.2348+8A>C rs771019219 0.00020
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_003070.5(SMARCA2):c.*9G>C rs561093327 0.00015
NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro) rs147609454 0.00015
NM_003070.5(SMARCA2):c.*230T>C rs966867044 0.00014
NM_003070.5(SMARCA2):c.*307C>T rs868705647 0.00012
NM_003070.5(SMARCA2):c.*765T>G rs901166717 0.00011
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu) rs760953290 0.00009
NM_003070.5(SMARCA2):c.957C>G (p.Leu319=) rs368952400 0.00009
NM_003070.5(SMARCA2):c.*537T>C rs759183108 0.00008
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.*587T>C rs918541411 0.00007
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=) rs371544356 0.00007
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003070.5(SMARCA2):c.*80T>C rs370531788 0.00006
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=) rs147154246 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.3981+11C>G rs1231425120 0.00004
NM_003070.5(SMARCA2):c.4499A>C (p.Lys1500Thr) rs759970929 0.00004
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln) rs201798443 0.00004
NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=) rs61761955 0.00004
NM_003070.5(SMARCA2):c.4737+12C>T rs769322005 0.00004
NM_003070.5(SMARCA2):c.2037-4C>A rs772646899 0.00003
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=) rs150630640 0.00003
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala) rs3793510 0.00003
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) rs547998868 0.00003
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) rs146164750 0.00003
NM_003070.5(SMARCA2):c.701A>C (p.Gln234Pro) rs560604623 0.00003
NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr) rs1007969036 0.00003
NM_003070.5(SMARCA2):c.3165T>C (p.Leu1055=) rs369919125 0.00002
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=) rs745662991 0.00002
NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=) rs373924332 0.00002
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His) rs138760068 0.00002
NM_003070.5(SMARCA2):c.*29C>T rs758742198 0.00001
NM_003070.5(SMARCA2):c.*782G>A rs1056878965 0.00001
NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=) rs753721830 0.00001
NM_003070.5(SMARCA2):c.1812G>A (p.Lys604=) rs1400253844 0.00001
NM_003070.5(SMARCA2):c.1877+9T>A rs760917036 0.00001
NM_003070.5(SMARCA2):c.2070C>G (p.Ser690Arg) rs1298685112 0.00001
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu) rs199989401 0.00001
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=) rs886063776 0.00001
NM_003070.5(SMARCA2):c.2527-3T>C rs781267277 0.00001
NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln) rs1471482709 0.00001
NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=) rs761701446 0.00001
NM_003070.5(SMARCA2):c.3768G>A (p.Met1256Ile) rs370403102 0.00001
NM_003070.5(SMARCA2):c.399C>T (p.His133=) rs907788066 0.00001
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu) rs751758557 0.00001
NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln) rs537631853 0.00001
NM_003070.5(SMARCA2):c.4738-9T>C rs886063796 0.00001
NM_003070.5(SMARCA2):c.4765G>C (p.Asp1589His) rs1380500654 0.00001
NM_003070.5(SMARCA2):c.597C>T (p.Pro199=) rs747247552 0.00001
NM_003070.5(SMARCA2):c.699G>A (p.Gln233=) rs1563724939 0.00001
NM_003070.5(SMARCA2):c.791-7C>T rs558585794 0.00001
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) rs1417006108 0.00001
NM_003070.5(SMARCA2):c.990C>T (p.Pro330=) rs1440645966 0.00001
NG_032162.2:g.118997_171770del
NM_001289396.1:c.[3495G>C(;)3917G>A]
NM_003070.5(SMARCA2):c.*101A>C rs749591740
NM_003070.5(SMARCA2):c.*16T>C rs768982865
NM_003070.5(SMARCA2):c.*192G>C rs768360622
NM_003070.5(SMARCA2):c.*197A>G rs886063798
NM_003070.5(SMARCA2):c.*204G>A rs1295221964
NM_003070.5(SMARCA2):c.*324G>C rs550337302
NM_003070.5(SMARCA2):c.*355dup rs541329338
NM_003070.5(SMARCA2):c.*489A>G rs1828016602
NM_003070.5(SMARCA2):c.*5T>C rs886063797
NM_003070.5(SMARCA2):c.*670A>G rs1828028962
NM_003070.5(SMARCA2):c.*694T>G rs886063800
NM_003070.5(SMARCA2):c.*876G>C rs553367571
NM_003070.5(SMARCA2):c.-37+1G>T
NM_003070.5(SMARCA2):c.105A>G (p.Pro35=) rs1039400951
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
NM_003070.5(SMARCA2):c.1333C>T (p.Arg445Cys) rs1383968848
NM_003070.5(SMARCA2):c.1347+16dup
NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly) rs1820557069
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr) rs863224922
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del) rs754525705
NM_003070.5(SMARCA2):c.2032A>G (p.Ile678Val) rs1043816045
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg) rs1821581008
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His) rs2130464312
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) rs281875191
NM_003070.5(SMARCA2):c.2290A>G (p.Thr764Ala)
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.2383T>C (p.Trp795Arg) rs1821653681
NM_003070.5(SMARCA2):c.2431C>T (p.Arg811Cys)
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) rs797045974
NM_003070.5(SMARCA2):c.2508C>A (p.Asp836Glu) rs2130475008
NM_003070.5(SMARCA2):c.2531G>A (p.Arg844Gln)
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly) rs886041045
NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln) rs281875199
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003070.5(SMARCA2):c.2561A>T (p.His854Leu) rs281875202
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.2566A>G (p.Met856Val)
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.26C>T (p.Ala9Val)
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)
NM_003070.5(SMARCA2):c.274G>A (p.Gly92Arg) rs1316406047
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
NM_003070.5(SMARCA2):c.2831C>T (p.Pro944Leu)
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)
NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg) rs1821908356
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn) rs1554624100
NM_003070.5(SMARCA2):c.2910G>A (p.Met970Ile)
NM_003070.5(SMARCA2):c.2914G>C (p.Ala972Pro) rs2130525728
NM_003070.5(SMARCA2):c.2933A>T (p.Tyr978Phe) rs78915420
NM_003070.5(SMARCA2):c.2966C>A (p.Thr989Lys)
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
NM_003070.5(SMARCA2):c.2991+10G>A rs17712152
NM_003070.5(SMARCA2):c.3026T>C (p.Ile1009Thr)
NM_003070.5(SMARCA2):c.3079-25T>A rs10738570
NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr) rs145516397
NM_003070.5(SMARCA2):c.3216C>T (p.Phe1072=) rs770440833
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu) rs1822649338
NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys) rs1822649784
NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu) rs1822650605
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3389G>A (p.Gly1130Asp) rs1563774743
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp) rs387907194
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
NM_003070.5(SMARCA2):c.3448C>G (p.Pro1150Ala) rs1822944896
NM_003070.5(SMARCA2):c.3451C>T (p.His1151Tyr)
NM_003070.5(SMARCA2):c.3457-2A>T rs1823192606
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly) rs2130599529
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg) rs863224921
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe) rs2130599641
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro) rs1823198138
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3633C>T (p.His1211=) rs1353802111
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)
NM_003070.5(SMARCA2):c.3670G>A (p.Glu1224Lys)
NM_003070.5(SMARCA2):c.3763-1230G>C rs1453505894
NM_003070.5(SMARCA2):c.3829G>A (p.Glu1277Lys)
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr)
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met) rs2130626814
NM_003070.5(SMARCA2):c.4029T>A (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4199+46C>T rs2274095
NM_003070.5(SMARCA2):c.4200-2A>G
NM_003070.5(SMARCA2):c.4216G>A (p.Val1406Met)
NM_003070.5(SMARCA2):c.4262G>A (p.Arg1421Gln) rs1827027348
NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr)
NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu) rs752298477
NM_003070.5(SMARCA2):c.4461+3C>G rs1827087118
NM_003070.5(SMARCA2):c.4525G>C (p.Glu1509Gln)
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=) rs543880790
NM_003070.5(SMARCA2):c.4673C>G (p.Pro1558Arg) rs778494811
NM_003070.5(SMARCA2):c.4696G>A (p.Val1566Ile) rs1827870545
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) rs1827870545
NM_003070.5(SMARCA2):c.4701G>A (p.Val1567=) rs886063795
NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu) rs1373182486
NM_003070.5(SMARCA2):c.4772G>T (p.Ter1591Leu)
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser) rs768229159
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln238_Pro239insGlnGlnGlnGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.693G>A (p.Gln231=) rs149130789
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003070.5(SMARCA2):c.750A>T (p.Gln250His) rs62639302
NM_003070.5(SMARCA2):c.800C>G (p.Pro267Arg)
NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549
NM_003070.5(SMARCA2):c.919G>A (p.Val307Met) rs1819907795
NM_003070.5(SMARCA2):c.929C>A (p.Pro310Gln) rs1330852847
NM_003070.5(SMARCA2):c.961C>T (p.Leu321=) rs770243967

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