ClinVar Miner

List of variants in gene SMARCA2 studied for Inborn genetic diseases

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Total variants: 162
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HGVS dbSNP gnomAD frequency
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.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.717G>A (p.Pro239=) rs10964525 0.02801
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.666A>G (p.Gln222=) rs13296987 0.00541
NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=) rs61736902 0.00490
NM_003070.5(SMARCA2):c.3555C>T (p.Leu1185=) rs78868042 0.00444
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_003070.5(SMARCA2):c.2136G>A (p.Val712=) rs147739329 0.00159
NM_003070.5(SMARCA2):c.513C>A (p.Pro171=) rs148002538 0.00152
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_003070.5(SMARCA2):c.844G>A (p.Ala282Thr) rs929861388 0.00122
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.3282A>G (p.Leu1094=) rs140418138 0.00073
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.1962G>A (p.Gln654=) rs151212782 0.00058
NM_003070.5(SMARCA2):c.231C>T (p.Ile77=) rs148086416 0.00058
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
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.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003070.5(SMARCA2):c.2929C>T (p.Leu977=) rs139445919 0.00020
NM_003070.5(SMARCA2):c.1080A>G (p.Glu360=) rs138782877 0.00019
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003070.5(SMARCA2):c.1266T>A (p.Thr422=) rs146138142 0.00016
NM_003070.5(SMARCA2):c.4200-4G>A rs190182277 0.00016
NM_003070.5(SMARCA2):c.2244C>T (p.Ala748=) rs140551438 0.00011
NM_003070.5(SMARCA2):c.681G>A (p.Gln227=) rs142219087 0.00010
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=) rs147154246 0.00006
NM_003070.5(SMARCA2):c.3963G>A (p.Thr1321=) rs772015906 0.00006
NM_003070.5(SMARCA2):c.400G>A (p.Val134Ile) rs201403629 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu) rs149394378 0.00005
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln) rs201798443 0.00004
NM_003070.5(SMARCA2):c.1890C>T (p.Ala630=) rs144414155 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.210G>A (p.Met70Ile) rs529054959 0.00002
NM_003070.5(SMARCA2):c.2348+3A>G rs368599978 0.00002
NM_003070.5(SMARCA2):c.4716C>T (p.Ser1572=) rs1395708134 0.00002
NM_003070.5(SMARCA2):c.4764T>A (p.Asp1588Glu) rs372976069 0.00002
NM_003070.5(SMARCA2):c.3191C>T (p.Ala1064Val) rs747313863 0.00001
NM_003070.5(SMARCA2):c.3492G>A (p.Gly1164=) rs1366543197 0.00001
NM_003070.5(SMARCA2):c.3882C>G (p.Leu1294=) rs751409386 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.869C>T (p.Ala290Val) rs1284404989 0.00001
NM_003070.5(SMARCA2):c.1146A>C (p.Ala382=)
NM_003070.5(SMARCA2):c.117C>T (p.Ser39=)
NM_003070.5(SMARCA2):c.118G>A (p.Val40Ile)
NM_003070.5(SMARCA2):c.1201C>T (p.Arg401Cys) rs1161689441
NM_003070.5(SMARCA2):c.1224G>A (p.Thr408=)
NM_003070.5(SMARCA2):c.1265C>G (p.Thr422Ser)
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1586T>G (p.Leu529Arg) rs1554619357
NM_003070.5(SMARCA2):c.1685G>A (p.Arg562Lys)
NM_003070.5(SMARCA2):c.1686G>A (p.Arg562=)
NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser)
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
NM_003070.5(SMARCA2):c.2087G>C (p.Arg696Thr)
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)
NM_003070.5(SMARCA2):c.2326T>C (p.Tyr776His) rs1554623111
NM_003070.5(SMARCA2):c.2332A>C (p.Ile778Leu)
NM_003070.5(SMARCA2):c.2639C>A (p.Thr880Asn) rs2130486498
NM_003070.5(SMARCA2):c.2649G>A (p.Pro883=)
NM_003070.5(SMARCA2):c.2737T>C (p.Phe913Leu) rs1554623885
NM_003070.5(SMARCA2):c.2805C>T (p.Ile935=) rs1563760564
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.3094C>T (p.His1032Tyr)
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
NM_003070.5(SMARCA2):c.3412G>C (p.Ala1138Pro) rs1822943756
NM_003070.5(SMARCA2):c.3570C>T (p.Tyr1190=)
NM_003070.5(SMARCA2):c.3593T>G (p.Val1198Gly) rs1554629007
NM_003070.5(SMARCA2):c.3706G>A (p.Asp1236Asn)
NM_003070.5(SMARCA2):c.3780G>A (p.Arg1260=) rs777556670
NM_003070.5(SMARCA2):c.3796C>G (p.Arg1266Gly) rs768875248
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.4059T>C (p.Asp1353=)
NM_003070.5(SMARCA2):c.4147C>A (p.Leu1383Met)
NM_003070.5(SMARCA2):c.4151C>T (p.Thr1384Ile)
NM_003070.5(SMARCA2):c.4200-2A>G
NM_003070.5(SMARCA2):c.4200-5C>T
NM_003070.5(SMARCA2):c.4411G>A (p.Val1471Ile)
NM_003070.5(SMARCA2):c.447A>T (p.Pro149=)
NM_003070.5(SMARCA2):c.4486C>A (p.Gln1496Lys) rs1554645104
NM_003070.5(SMARCA2):c.4521C>A (p.Ala1507=)
NM_003070.5(SMARCA2):c.4527G>C (p.Glu1509Asp)
NM_003070.5(SMARCA2):c.4570G>C (p.Asp1524His)
NM_003070.5(SMARCA2):c.458C>T (p.Pro153Leu)
NM_003070.5(SMARCA2):c.4672C>T (p.Pro1558Ser)
NM_003070.5(SMARCA2):c.4685A>T (p.Lys1562Ile)
NM_003070.5(SMARCA2):c.4687G>A (p.Ala1563Thr)
NM_003070.5(SMARCA2):c.4688C>T (p.Ala1563Val)
NM_003070.5(SMARCA2):c.4737T>A (p.Arg1579=)
NM_003070.5(SMARCA2):c.4743G>T (p.Gln1581His)
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.500C>G (p.Pro167Arg)
NM_003070.5(SMARCA2):c.51G>C (p.Pro17=) rs148865068
NM_003070.5(SMARCA2):c.598G>A (p.Glu200Lys)
NM_003070.5(SMARCA2):c.624G>T (p.Gly208=)
NM_003070.5(SMARCA2):c.633G>A (p.Thr211=)
NM_003070.5(SMARCA2):c.666_668del (p.Gln238del)
NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del) rs748496168
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln236_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[17] (p.Gln235_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[18] (p.Gln234_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[5] (p.Gln231_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.678G>A (p.Gln226=)
NM_003070.5(SMARCA2):c.680A>G (p.Gln227Arg)
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003070.5(SMARCA2):c.698_727dup (p.Gln242_Pro243insGlnGlnGlnGlnGlnGlnProGlnGlnGln)
NM_003070.5(SMARCA2):c.707_727dup (p.Gln242_Pro243insGlnGlnGlnProGlnGlnGln)
NM_003070.5(SMARCA2):c.708_713dup (p.Gln238_Pro239insGlnGln)
NM_003070.5(SMARCA2):c.716C>T (p.Pro239Leu) rs752254994
NM_003070.5(SMARCA2):c.731C>T (p.Pro244Leu)
NM_003070.5(SMARCA2):c.732G>A (p.Pro244=)
NM_003070.5(SMARCA2):c.736C>T (p.Pro246Ser)
NM_003070.5(SMARCA2):c.744G>A (p.Thr248=) rs530795662
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003070.5(SMARCA2):c.765C>G (p.Ala255=)
NM_003070.5(SMARCA2):c.799C>T (p.Pro267Ser)
NM_003070.5(SMARCA2):c.820A>G (p.Thr274Ala)
NM_003070.5(SMARCA2):c.821C>A (p.Thr274Asn)
NM_003070.5(SMARCA2):c.847C>T (p.Pro283Ser)
NM_003070.5(SMARCA2):c.850_873del (p.Gly284_Pro291del)
NM_003070.5(SMARCA2):c.871C>T (p.Pro291Ser)
NM_003070.5(SMARCA2):c.879A>G (p.Ala293=)
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549
NM_003070.5(SMARCA2):c.890C>T (p.Pro297Leu)
NM_003070.5(SMARCA2):c.899C>T (p.Ala300Val)
NM_003070.5(SMARCA2):c.8C>T (p.Thr3Met)
NM_003070.5(SMARCA2):c.903A>G (p.Ala301=)
NM_003070.5(SMARCA2):c.904G>A (p.Val302Met)
NM_003070.5(SMARCA2):c.909C>T (p.Pro303=)
NM_003070.5(SMARCA2):c.981C>T (p.Arg327=)

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