ClinVar Miner

List of variants in gene SMARCA2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 472
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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.4595-20T>C rs3818384 0.15770
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.717G>A (p.Pro239=) rs10964525 0.02801
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.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.1522-19G>A rs141618610 0.00554
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_003070.5(SMARCA2):c.4360-16C>G rs142175015 0.00500
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.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.2526+13A>G rs112774333 0.00082
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.4737+13G>A rs149380449 0.00060
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.1983C>A (p.Leu661=) rs140384223 0.00053
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_003070.5(SMARCA2):c.4360-14A>T rs146328709 0.00046
NM_003070.5(SMARCA2):c.226-20A>G rs149279147 0.00044
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.1877+19G>A rs569297862 0.00036
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.3126-17C>T rs200229990 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_003070.5(SMARCA2):c.4737+18G>A rs191731237 0.00026
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
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.2929C>T (p.Leu977=) rs139445919 0.00020
NM_003070.5(SMARCA2):c.1080A>G (p.Glu360=) rs138782877 0.00019
NM_003070.5(SMARCA2):c.3510G>T (p.Arg1170=) rs148467601 0.00019
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.1266T>A (p.Thr422=) rs146138142 0.00016
NM_003070.5(SMARCA2):c.4200-4G>A rs190182277 0.00016
NM_003070.5(SMARCA2):c.1428C>G (p.Leu476=) rs768798608 0.00015
NM_003070.5(SMARCA2):c.674A>C (p.Gln225Pro) rs145170448 0.00014
NM_003070.5(SMARCA2):c.2244C>T (p.Ala748=) rs140551438 0.00011
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=) rs981565985 0.00008
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.3267G>A (p.Arg1089=) rs147154246 0.00006
NM_003070.5(SMARCA2):c.3963G>A (p.Thr1321=) rs772015906 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.4509G>A (p.Arg1503=) rs751453496 0.00005
NM_003070.5(SMARCA2):c.1188G>T (p.Val396=) rs372968761 0.00004
NM_003070.5(SMARCA2):c.2211C>T (p.Ser737=) rs753721769 0.00004
NM_003070.5(SMARCA2):c.2673C>T (p.Leu891=) rs201306504 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.1890C>T (p.Ala630=) rs144414155 0.00003
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.1510C>A (p.Arg504=) rs576817778 0.00002
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.2349-15T>A rs777370075 0.00002
NM_003070.5(SMARCA2):c.2931G>A (p.Leu977=) rs758491724 0.00002
NM_003070.5(SMARCA2):c.3702G>A (p.Pro1234=) rs140458185 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.4716C>T (p.Ser1572=) rs1395708134 0.00002
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His) rs138760068 0.00002
NM_003070.5(SMARCA2):c.4764T>A (p.Asp1588Glu) rs372976069 0.00002
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly) rs1245060732 0.00001
NM_003070.5(SMARCA2):c.2154C>G (p.Leu718=) rs565609955 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.3191C>T (p.Ala1064Val) rs747313863 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003070.5(SMARCA2):c.3882C>G (p.Leu1294=) rs751409386 0.00001
NM_003070.5(SMARCA2):c.3982-11C>A rs780683031 0.00001
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu) rs751758557 0.00001
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=) rs759832527 0.00001
NM_003070.5(SMARCA2):c.4738-9T>C rs886063796 0.00001
NM_003070.5(SMARCA2):c.710A>C (p.Gln237Pro) rs1475414100 0.00001
NM_003070.5(SMARCA2):c.791-7C>T rs558585794 0.00001
NM_003070.5(SMARCA2):c.869C>T (p.Ala290Val) rs1284404989 0.00001
NM_003070.5(SMARCA2):c.873C>T (p.Pro291=) rs1339118310 0.00001
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) rs1417006108 0.00001
NC_000009.11:g.(?_2170399)_(2170492_?)del
NC_000009.11:g.(?_2181551)_(2192739_?)del
NM_003070.5(SMARCA2):c.1046+7C>T
NM_003070.5(SMARCA2):c.1047-13T>C
NM_003070.5(SMARCA2):c.1047-17T>C
NM_003070.5(SMARCA2):c.104C>T (p.Pro35Leu)
NM_003070.5(SMARCA2):c.1106C>T (p.Pro369Leu)
NM_003070.5(SMARCA2):c.1131C>T (p.Thr377=)
NM_003070.5(SMARCA2):c.113G>A (p.Gly38Asp)
NM_003070.5(SMARCA2):c.1156C>G (p.Leu386Val)
NM_003070.5(SMARCA2):c.1160A>G (p.Asn387Ser)
NM_003070.5(SMARCA2):c.1173+10T>A
NM_003070.5(SMARCA2):c.1173+13C>A
NM_003070.5(SMARCA2):c.1173+15C>T
NM_003070.5(SMARCA2):c.1173+8A>G
NM_003070.5(SMARCA2):c.1174-7T>C
NM_003070.5(SMARCA2):c.1174-8C>T
NM_003070.5(SMARCA2):c.1181A>G (p.Gln394Arg) rs1243149775
NM_003070.5(SMARCA2):c.118G>A (p.Val40Ile)
NM_003070.5(SMARCA2):c.1194C>T (p.Ala398=)
NM_003070.5(SMARCA2):c.1212G>A (p.Thr404=)
NM_003070.5(SMARCA2):c.1249C>T (p.Arg417Trp)
NM_003070.5(SMARCA2):c.130A>G (p.Met44Val)
NM_003070.5(SMARCA2):c.1312A>G (p.Ile438Val)
NM_003070.5(SMARCA2):c.1347+19T>G
NM_003070.5(SMARCA2):c.1347+20T>C
NM_003070.5(SMARCA2):c.1347+4C>T
NM_003070.5(SMARCA2):c.1347+9A>C rs2130344799
NM_003070.5(SMARCA2):c.134G>C (p.Gly45Ala)
NM_003070.5(SMARCA2):c.1353C>T (p.Tyr451=)
NM_003070.5(SMARCA2):c.1356G>C (p.Leu452=)
NM_003070.5(SMARCA2):c.1359C>T (p.Asn453=)
NM_003070.5(SMARCA2):c.1374T>C (p.His458=)
NM_003070.5(SMARCA2):c.1378A>G (p.Lys460Glu) rs1445038399
NM_003070.5(SMARCA2):c.1388A>G (p.Lys463Arg)
NM_003070.5(SMARCA2):c.1426C>G (p.Leu476Val)
NM_003070.5(SMARCA2):c.1434A>G (p.Lys478=)
NM_003070.5(SMARCA2):c.1511G>A (p.Arg504Gln)
NM_003070.5(SMARCA2):c.1521+15G>T
NM_003070.5(SMARCA2):c.1521+16C>T
NM_003070.5(SMARCA2):c.1521+8del
NM_003070.5(SMARCA2):c.1521+9C>G
NM_003070.5(SMARCA2):c.1522-17T>C
NM_003070.5(SMARCA2):c.155G>C (p.Ser52Thr)
NM_003070.5(SMARCA2):c.1569C>G (p.Asp523Glu)
NM_003070.5(SMARCA2):c.1571G>A (p.Arg524Lys)
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.1670A>G (p.Lys557Arg)
NM_003070.5(SMARCA2):c.1680G>A (p.Arg560=)
NM_003070.5(SMARCA2):c.1692+10C>G
NM_003070.5(SMARCA2):c.1692+12_1692+13delinsGT
NM_003070.5(SMARCA2):c.1692+20T>C
NM_003070.5(SMARCA2):c.1692+4C>G
NM_003070.5(SMARCA2):c.1692+8T>C
NM_003070.5(SMARCA2):c.1693-15A>G
NM_003070.5(SMARCA2):c.1693-18G>A
NM_003070.5(SMARCA2):c.1728C>T (p.Ala576=)
NM_003070.5(SMARCA2):c.1736C>T (p.Pro579Leu)
NM_003070.5(SMARCA2):c.173C>T (p.Pro58Leu) rs764338204
NM_003070.5(SMARCA2):c.1746+11G>A
NM_003070.5(SMARCA2):c.1746+20T>G
NM_003070.5(SMARCA2):c.1746+4del rs954125052
NM_003070.5(SMARCA2):c.1747-11C>A rs960524428
NM_003070.5(SMARCA2):c.1747-9C>T
NM_003070.5(SMARCA2):c.1818G>T (p.Leu606=)
NM_003070.5(SMARCA2):c.1821C>T (p.Phe607=)
NM_003070.5(SMARCA2):c.1830A>G (p.Glu610=)
NM_003070.5(SMARCA2):c.183G>T (p.Gly61=)
NM_003070.5(SMARCA2):c.1849C>T (p.Leu617=)
NM_003070.5(SMARCA2):c.1877+7C>T
NM_003070.5(SMARCA2):c.1878-16C>T
NM_003070.5(SMARCA2):c.1878-17T>C
NM_003070.5(SMARCA2):c.1878-17dup
NM_003070.5(SMARCA2):c.1878-19C>T
NM_003070.5(SMARCA2):c.1878-4T>A
NM_003070.5(SMARCA2):c.1878-7T>G
NM_003070.5(SMARCA2):c.1878-8T>C
NM_003070.5(SMARCA2):c.187A>T (p.Thr63Ser)
NM_003070.5(SMARCA2):c.1888G>A (p.Ala630Thr)
NM_003070.5(SMARCA2):c.1890C>A (p.Ala630=)
NM_003070.5(SMARCA2):c.189A>C (p.Thr63=)
NM_003070.5(SMARCA2):c.1917T>C (p.Asp639=)
NM_003070.5(SMARCA2):c.1935+10T>C
NM_003070.5(SMARCA2):c.1935+11A>G
NM_003070.5(SMARCA2):c.1935+13C>T
NM_003070.5(SMARCA2):c.1936-10C>T
NM_003070.5(SMARCA2):c.1936-13G>T
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
NM_003070.5(SMARCA2):c.1967C>T (p.Thr656Ile)
NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=)
NM_003070.5(SMARCA2):c.2004A>G (p.Glu668=)
NM_003070.5(SMARCA2):c.2009C>G (p.Ser670Cys)
NM_003070.5(SMARCA2):c.2010T>C (p.Ser670=)
NM_003070.5(SMARCA2):c.2019T>C (p.Asp673=)
NM_003070.5(SMARCA2):c.2027A>T (p.Gln676Leu)
NM_003070.5(SMARCA2):c.2036+17del
NM_003070.5(SMARCA2):c.2037-9C>T
NM_003070.5(SMARCA2):c.2052C>T (p.Asp684=)
NM_003070.5(SMARCA2):c.2055G>T (p.Val685=)
NM_003070.5(SMARCA2):c.2068A>G (p.Ser690Gly)
NM_003070.5(SMARCA2):c.2078A>G (p.Tyr693Cys)
NM_003070.5(SMARCA2):c.208A>T (p.Met70Leu)
NM_003070.5(SMARCA2):c.2100C>G (p.Ser700=)
NM_003070.5(SMARCA2):c.2109C>G (p.Thr703=)
NM_003070.5(SMARCA2):c.2109C>T (p.Thr703=)
NM_003070.5(SMARCA2):c.2151C>T (p.Ala717=)
NM_003070.5(SMARCA2):c.2185-8C>T
NM_003070.5(SMARCA2):c.2212C>T (p.Leu738=)
NM_003070.5(SMARCA2):c.2232C>T (p.Asn744=)
NM_003070.5(SMARCA2):c.225+12T>C
NM_003070.5(SMARCA2):c.225+7G>A
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2265G>C (p.Lys755Asn)
NM_003070.5(SMARCA2):c.2280T>C (p.Ile760=)
NM_003070.5(SMARCA2):c.2286C>T (p.Leu762=)
NM_003070.5(SMARCA2):c.228C>T (p.Pro76=)
NM_003070.5(SMARCA2):c.2295T>C (p.Tyr765=)
NM_003070.5(SMARCA2):c.2306A>G (p.His769Arg)
NM_003070.5(SMARCA2):c.2341C>T (p.Pro781Ser)
NM_003070.5(SMARCA2):c.2343C>T (p.Pro781=)
NM_003070.5(SMARCA2):c.2348+12C>T
NM_003070.5(SMARCA2):c.2348+9A>C rs2130464724
NM_003070.5(SMARCA2):c.2349-19T>G
NM_003070.5(SMARCA2):c.2355A>G (p.Leu785=)
NM_003070.5(SMARCA2):c.238A>G (p.Ile80Val)
NM_003070.5(SMARCA2):c.2398G>A (p.Val800Met)
NM_003070.5(SMARCA2):c.2400G>T (p.Val800=)
NM_003070.5(SMARCA2):c.2401A>G (p.Lys801Glu)
NM_003070.5(SMARCA2):c.2415+18T>G
NM_003070.5(SMARCA2):c.2415+3T>C
NM_003070.5(SMARCA2):c.2457G>A (p.Arg819=)
NM_003070.5(SMARCA2):c.2471A>G (p.Asn824Ser)
NM_003070.5(SMARCA2):c.2475C>A (p.Val825=)
NM_003070.5(SMARCA2):c.2476C>G (p.Leu826Val)
NM_003070.5(SMARCA2):c.2478C>T (p.Leu826=)
NM_003070.5(SMARCA2):c.251G>A (p.Gly84Glu) rs1007247960
NM_003070.5(SMARCA2):c.2526+11A>G
NM_003070.5(SMARCA2):c.2526+16del
NM_003070.5(SMARCA2):c.2526+17T>A
NM_003070.5(SMARCA2):c.2526+19A>G
NM_003070.5(SMARCA2):c.2527-12C>T
NM_003070.5(SMARCA2):c.2550G>T (p.Val850=)
NM_003070.5(SMARCA2):c.2551G>A (p.Asp851Asn)
NM_003070.5(SMARCA2):c.2553C>T (p.Asp851=)
NM_003070.5(SMARCA2):c.2569A>G (p.Lys857Glu)
NM_003070.5(SMARCA2):c.2595G>A (p.Gln865=)
NM_003070.5(SMARCA2):c.2598C>T (p.Val866=)
NM_003070.5(SMARCA2):c.2604C>T (p.Asn868=)
NM_003070.5(SMARCA2):c.2643G>C (p.Gly881=)
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2649G>A (p.Pro883=)
NM_003070.5(SMARCA2):c.2770-13G>A
NM_003070.5(SMARCA2):c.2770-3C>T
NM_003070.5(SMARCA2):c.2792C>G (p.Thr931Ser) rs2130492796
NM_003070.5(SMARCA2):c.27G>A (p.Ala9=)
NM_003070.5(SMARCA2):c.2812C>T (p.Leu938=)
NM_003070.5(SMARCA2):c.2814A>G (p.Leu938=)
NM_003070.5(SMARCA2):c.2859A>G (p.Glu953=)
NM_003070.5(SMARCA2):c.2877C>T (p.Pro959=)
NM_003070.5(SMARCA2):c.2884-4G>A
NM_003070.5(SMARCA2):c.2889A>G (p.Glu963=)
NM_003070.5(SMARCA2):c.289A>G (p.Thr97Ala)
NM_003070.5(SMARCA2):c.2955G>C (p.Gly985=)
NM_003070.5(SMARCA2):c.2991+10G>A rs17712152
NM_003070.5(SMARCA2):c.2991+10G>T rs17712152
NM_003070.5(SMARCA2):c.2991+19T>C
NM_003070.5(SMARCA2):c.2991+4C>T
NM_003070.5(SMARCA2):c.2991+5G>A
NM_003070.5(SMARCA2):c.2991+9C>G
NM_003070.5(SMARCA2):c.2991+9C>T
NM_003070.5(SMARCA2):c.2992-13C>T
NM_003070.5(SMARCA2):c.2992-18C>G
NM_003070.5(SMARCA2):c.2992-19C>A
NM_003070.5(SMARCA2):c.2992-20C>T
NM_003070.5(SMARCA2):c.3034T>C (p.Leu1012=)
NM_003070.5(SMARCA2):c.304C>A (p.Pro102Thr)
NM_003070.5(SMARCA2):c.305C>A (p.Pro102His)
NM_003070.5(SMARCA2):c.3078+9G>A
NM_003070.5(SMARCA2):c.3094C>T (p.His1032Tyr)
NM_003070.5(SMARCA2):c.310C>T (p.Pro104Ser)
NM_003070.5(SMARCA2):c.3125+13T>C
NM_003070.5(SMARCA2):c.3125+16T>A
NM_003070.5(SMARCA2):c.3125+21del
NM_003070.5(SMARCA2):c.3125+5A>G
NM_003070.5(SMARCA2):c.3126-9dup
NM_003070.5(SMARCA2):c.3137A>T (p.Tyr1046Phe)
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)
NM_003070.5(SMARCA2):c.316A>G (p.Met106Val)
NM_003070.5(SMARCA2):c.3192G>T (p.Ala1064=)
NM_003070.5(SMARCA2):c.31C>T (p.Pro11Ser)
NM_003070.5(SMARCA2):c.3201C>T (p.His1067=)
NM_003070.5(SMARCA2):c.3207G>A (p.Val1069=)
NM_003070.5(SMARCA2):c.3213T>C (p.Leu1071=)
NM_003070.5(SMARCA2):c.3228A>G (p.Thr1076=)
NM_003070.5(SMARCA2):c.3292+15C>T rs2130556495
NM_003070.5(SMARCA2):c.3293-11G>C
NM_003070.5(SMARCA2):c.3293-13del
NM_003070.5(SMARCA2):c.3294C>T (p.Gly1098=)
NM_003070.5(SMARCA2):c.3300C>T (p.Thr1100=)
NM_003070.5(SMARCA2):c.3303G>C (p.Lys1101Asn)
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
NM_003070.5(SMARCA2):c.337A>C (p.Met113Leu)
NM_003070.5(SMARCA2):c.3384TGG[3] (p.Gly1130_Leu1131insGly)
NM_003070.5(SMARCA2):c.3420A>T (p.Thr1140=)
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) rs886041299
NM_003070.5(SMARCA2):c.3448C>T (p.Pro1150Ser)
NM_003070.5(SMARCA2):c.3456+11C>G
NM_003070.5(SMARCA2):c.3457-12C>T
NM_003070.5(SMARCA2):c.3457-16T>C
NM_003070.5(SMARCA2):c.3457-19A>T
NM_003070.5(SMARCA2):c.3457-6A>G
NM_003070.5(SMARCA2):c.3458A>T (p.Asp1153Val)
NM_003070.5(SMARCA2):c.3528C>G (p.Thr1176=)
NM_003070.5(SMARCA2):c.3528C>T (p.Thr1176=)
NM_003070.5(SMARCA2):c.355+10C>T
NM_003070.5(SMARCA2):c.355+18A>G rs1262234607
NM_003070.5(SMARCA2):c.3579C>A (p.Asn1193Lys)
NM_003070.5(SMARCA2):c.3579C>T (p.Asn1193=)
NM_003070.5(SMARCA2):c.3594G>C (p.Val1198=)
NM_003070.5(SMARCA2):c.3609G>A (p.Met1203Ile)
NM_003070.5(SMARCA2):c.3644C>T (p.Ala1215Val)
NM_003070.5(SMARCA2):c.3648C>T (p.Phe1216=)
NM_003070.5(SMARCA2):c.3684+10A>T
NM_003070.5(SMARCA2):c.3685-9T>C
NM_003070.5(SMARCA2):c.3705C>T (p.Asp1235=)
NM_003070.5(SMARCA2):c.3770A>C (p.Asp1257Ala)
NM_003070.5(SMARCA2):c.3779G>A (p.Arg1260Gln) rs2130626217
NM_003070.5(SMARCA2):c.3780G>A (p.Arg1260=) rs777556670
NM_003070.5(SMARCA2):c.3785G>C (p.Arg1262Thr)
NM_003070.5(SMARCA2):c.3807A>G (p.Lys1269=)
NM_003070.5(SMARCA2):c.3837G>A (p.Glu1279=)
NM_003070.5(SMARCA2):c.3844T>C (p.Ser1282Pro)
NM_003070.5(SMARCA2):c.3885C>T (p.Thr1295=)
NM_003070.5(SMARCA2):c.3894A>C (p.Glu1298Asp) rs141291951
NM_003070.5(SMARCA2):c.3894A>G (p.Glu1298=)
NM_003070.5(SMARCA2):c.3918G>A (p.Arg1306=)
NM_003070.5(SMARCA2):c.3957C>T (p.Ala1319=)
NM_003070.5(SMARCA2):c.3982-6G>A
NM_003070.5(SMARCA2):c.3988G>A (p.Glu1330Lys)
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.4045C>G (p.Arg1349Gly)
NM_003070.5(SMARCA2):c.4059T>C (p.Asp1353=)
NM_003070.5(SMARCA2):c.4067C>T (p.Pro1356Leu)
NM_003070.5(SMARCA2):c.4081G>A (p.Val1361Met)
NM_003070.5(SMARCA2):c.4116C>T (p.Pro1372=)
NM_003070.5(SMARCA2):c.4147C>A (p.Leu1383Met)
NM_003070.5(SMARCA2):c.4149G>A (p.Leu1383=)
NM_003070.5(SMARCA2):c.4173C>T (p.Ile1391=)
NM_003070.5(SMARCA2):c.4196A>G (p.Asp1399Gly)
NM_003070.5(SMARCA2):c.4200-5C>T
NM_003070.5(SMARCA2):c.4205A>T (p.Asn1402Ile)
NM_003070.5(SMARCA2):c.4218G>A (p.Val1406=) rs558384854
NM_003070.5(SMARCA2):c.4223G>A (p.Ser1408Asn)
NM_003070.5(SMARCA2):c.4234T>C (p.Leu1412=)
NM_003070.5(SMARCA2):c.4237G>A (p.Glu1413Lys)
NM_003070.5(SMARCA2):c.4239A>G (p.Glu1413=)
NM_003070.5(SMARCA2):c.4243G>A (p.Glu1415Lys)
NM_003070.5(SMARCA2):c.4253+12T>C
NM_003070.5(SMARCA2):c.4253+16G>A
NM_003070.5(SMARCA2):c.4253+18A>G
NM_003070.5(SMARCA2):c.4253+6G>A
NM_003070.5(SMARCA2):c.4253+9C>T rs757009984
NM_003070.5(SMARCA2):c.4254-15T>G
NM_003070.5(SMARCA2):c.4254-18G>C rs201349909
NM_003070.5(SMARCA2):c.4254-20T>C
NM_003070.5(SMARCA2):c.4254-4A>G
NM_003070.5(SMARCA2):c.4283_4286del (p.Ile1428fs) rs2129876075
NM_003070.5(SMARCA2):c.4294_4330dup (p.Arg1444delinsIleLysGluArgIleThrArgIleLeuTer)
NM_003070.5(SMARCA2):c.4296A>G (p.Ser1432=)
NM_003070.5(SMARCA2):c.4347C>T (p.Phe1449=)
NM_003070.5(SMARCA2):c.4359+5A>G
NM_003070.5(SMARCA2):c.4359+6T>C
NM_003070.5(SMARCA2):c.4360-16C>T rs142175015
NM_003070.5(SMARCA2):c.4360-9T>A
NM_003070.5(SMARCA2):c.4366A>G (p.Ile1456Val)
NM_003070.5(SMARCA2):c.4377T>C (p.His1459=)
NM_003070.5(SMARCA2):c.4384C>G (p.Arg1462Gly)
NM_003070.5(SMARCA2):c.4395C>G (p.Gly1465=)
NM_003070.5(SMARCA2):c.4431C>T (p.Asn1477=)
NM_003070.5(SMARCA2):c.4458C>G (p.Ser1486=)
NM_003070.5(SMARCA2):c.4461+10_4461+11del rs1261682948
NM_003070.5(SMARCA2):c.4461+13_4461+17del
NM_003070.5(SMARCA2):c.4461+17del rs777462019
NM_003070.5(SMARCA2):c.4462-14del rs2129940290
NM_003070.5(SMARCA2):c.4488G>C (p.Gln1496His)
NM_003070.5(SMARCA2):c.4500G>C (p.Lys1500Asn)
NM_003070.5(SMARCA2):c.4540G>C (p.Asp1514His)
NM_003070.5(SMARCA2):c.4548C>T (p.Ser1516=)
NM_003070.5(SMARCA2):c.4549_4557del (p.Asn1517_Glu1519del)
NM_003070.5(SMARCA2):c.4560GGAAGA[1] (p.Glu1522_Glu1523del)
NM_003070.5(SMARCA2):c.4564G>C (p.Glu1522Gln)
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
NM_003070.5(SMARCA2):c.4583C>T (p.Ser1528Leu)
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=) rs543880790
NM_003070.5(SMARCA2):c.4585G>C (p.Glu1529Gln)
NM_003070.5(SMARCA2):c.4589C>G (p.Ser1530Cys)
NM_003070.5(SMARCA2):c.4594+16C>T rs377486807
NM_003070.5(SMARCA2):c.4594+17G>A
NM_003070.5(SMARCA2):c.4595-1G>C
NM_003070.5(SMARCA2):c.4603G>A (p.Val1535Ile)
NM_003070.5(SMARCA2):c.4607A>C (p.Lys1536Thr)
NM_003070.5(SMARCA2):c.4634A>T (p.Asp1545Val) rs1827864772
NM_003070.5(SMARCA2):c.4635T>C (p.Asp1545=)
NM_003070.5(SMARCA2):c.4644C>T (p.Gly1548=)
NM_003070.5(SMARCA2):c.4644_4655del (p.Arg1549_Gly1552del)
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) rs1827870545
NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu) rs1373182486
NM_003070.5(SMARCA2):c.4734A>T (p.Glu1578Asp)
NM_003070.5(SMARCA2):c.4735C>T (p.Arg1579Cys)
NM_003070.5(SMARCA2):c.4737+11C>G
NM_003070.5(SMARCA2):c.4737+17G>C
NM_003070.5(SMARCA2):c.4737+20A>G
NM_003070.5(SMARCA2):c.4738-12T>C
NM_003070.5(SMARCA2):c.4738-14_4738-11dup
NM_003070.5(SMARCA2):c.4738-15T>C
NM_003070.5(SMARCA2):c.4738-17_4738-15del
NM_003070.5(SMARCA2):c.4743G>T (p.Gln1581His)
NM_003070.5(SMARCA2):c.4750G>T (p.Gly1584Ter)
NM_003070.5(SMARCA2):c.4758G>T (p.Gly1586=)
NM_003070.5(SMARCA2):c.4760C>T (p.Thr1587Met)
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.51G>A (p.Pro17=)
NM_003070.5(SMARCA2):c.51G>C (p.Pro17=) rs148865068
NM_003070.5(SMARCA2):c.53G>A (p.Gly18Glu)
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[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[6] (p.Gln232_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_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.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003070.5(SMARCA2):c.716C>T (p.Pro239Leu) rs752254994
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003070.5(SMARCA2):c.77T>C (p.Ile26Thr)
NM_003070.5(SMARCA2):c.791-19dup
NM_003070.5(SMARCA2):c.804G>C (p.Glu268Asp)
NM_003070.5(SMARCA2):c.807G>C (p.Leu269=)
NM_003070.5(SMARCA2):c.810C>T (p.Ser270=)
NM_003070.5(SMARCA2):c.818G>A (p.Ser273Asn)
NM_003070.5(SMARCA2):c.832C>A (p.Leu278Met)
NM_003070.5(SMARCA2):c.836C>A (p.Pro279Gln)
NM_003070.5(SMARCA2):c.836C>G (p.Pro279Arg)
NM_003070.5(SMARCA2):c.841C>A (p.Pro281Thr)
NM_003070.5(SMARCA2):c.842C>T (p.Pro281Leu)
NM_003070.5(SMARCA2):c.849C>A (p.Pro283=)
NM_003070.5(SMARCA2):c.849C>T (p.Pro283=)
NM_003070.5(SMARCA2):c.850_873dup (p.Pro291_Pro292insGlyGlyArgProSerProAlaPro)
NM_003070.5(SMARCA2):c.865C>T (p.Pro289Ser)
NM_003070.5(SMARCA2):c.869_952del (p.Ala290_Pro317del)
NM_003070.5(SMARCA2):c.871C>T (p.Pro291Ser)
NM_003070.5(SMARCA2):c.872C>G (p.Pro291Arg)
NM_003070.5(SMARCA2):c.873_890del (p.Gln296_Ala301del)
NM_003070.5(SMARCA2):c.874C>T (p.Pro292Ser) rs1486358678
NM_003070.5(SMARCA2):c.876C>G (p.Pro292=)
NM_003070.5(SMARCA2):c.891G>T (p.Pro297=)
NM_003070.5(SMARCA2):c.897G>T (p.Ala299=)
NM_003070.5(SMARCA2):c.923C>G (p.Pro308Arg)
NM_003070.5(SMARCA2):c.982A>C (p.Ile328Leu)
NM_003070.5(SMARCA2):c.995A>C (p.Gln332Pro)
NM_003070.5(SMARCA2):c.9G>A (p.Thr3=)

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