ClinVar Miner

List of variants in gene SMARCA2 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 390
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.1173+274T>C rs58526063 0.01478
NM_003070.5(SMARCA2):c.1173+299G>T rs58451824 0.01404
NM_003070.5(SMARCA2):c.1047-129G>A rs78191733 0.01392
NM_003070.5(SMARCA2):c.4738-271T>G rs115062952 0.01372
NM_003070.5(SMARCA2):c.3762+182G>A rs6475503 0.01291
NM_003070.5(SMARCA2):c.2883+107G>C rs79654091 0.01248
NM_003070.5(SMARCA2):c.1348-113C>G rs17530262 0.01212
NM_003070.5(SMARCA2):c.356-55T>C rs73377070 0.01212
NM_003070.5(SMARCA2):c.4253+135G>A rs117087869 0.01076
NM_003070.5(SMARCA2):c.2036+217T>C rs78934285 0.01031
NM_003070.5(SMARCA2):c.3762+250A>G rs116780349 0.00973
NM_003070.5(SMARCA2):c.2185-93A>G rs190807634 0.00969
NM_003070.5(SMARCA2):c.226-123T>C rs55778643 0.00966
NM_003070.5(SMARCA2):c.4594+165C>T rs150965441 0.00934
NM_003070.5(SMARCA2):c.-36-205T>C rs147397142 0.00906
NM_003070.5(SMARCA2):c.4595-182C>G rs114818921 0.00885
NM_003070.5(SMARCA2):c.3292+99T>C rs140232582 0.00867
NM_003070.5(SMARCA2):c.3981+235G>A rs111582890 0.00742
NM_003070.5(SMARCA2):c.2185-271C>T rs112976719 0.00715
NM_003070.5(SMARCA2):c.2036+64T>C rs139441037 0.00704
NM_003070.5(SMARCA2):c.3684+24A>T rs7047955 0.00622
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.1521+55A>G rs142396250 0.00493
NM_003070.5(SMARCA2):c.3843C>T (p.Pro1281=) rs61736902 0.00490
NM_003070.5(SMARCA2):c.4462-312A>G rs181421270 0.00452
NM_003070.5(SMARCA2):c.3555C>T (p.Leu1185=) rs78868042 0.00444
NM_003070.5(SMARCA2):c.2185-234C>G rs140544804 0.00437
NM_003070.5(SMARCA2):c.4594+152G>T rs74717220 0.00428
NM_003070.5(SMARCA2):c.3457-319T>C rs143940738 0.00413
NM_003070.5(SMARCA2):c.3982-24G>A rs151176995 0.00411
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_003070.5(SMARCA2):c.1522-182G>A rs191786234 0.00404
NM_003070.5(SMARCA2):c.2883+203G>A rs188727695 0.00401
NM_003070.5(SMARCA2):c.1348-150G>C rs184224520 0.00398
NM_003070.5(SMARCA2):c.1173+130G>C rs140629515 0.00391
NM_003070.5(SMARCA2):c.1174-122T>C rs112704791 0.00391
NM_003070.5(SMARCA2):c.2184+45A>G rs142661198 0.00385
NM_003070.5(SMARCA2):c.4461+204G>A rs144177679 0.00366
NM_003070.5(SMARCA2):c.3292+35C>G rs190765534 0.00340
NM_003070.5(SMARCA2):c.4359+126G>A rs189933658 0.00296
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.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 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.1962G>A (p.Gln654=) rs151212782 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.2526+52T>G rs369281552 0.00042
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.3126-17C>T rs200229990 0.00029
NM_003070.5(SMARCA2):c.4595-48C>T rs370294098 0.00027
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.2185-45C>T rs376422456 0.00020
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.2991+40A>G rs371367245 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.4200-4G>A rs190182277 0.00016
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.674A>C (p.Gln225Pro) rs145170448 0.00014
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.1347+45G>T rs771946204 0.00009
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.2532G>A (p.Arg844=) rs1029701024 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.482C>T (p.Pro161Leu) rs149394378 0.00005
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.2883+27G>T rs927286912 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.1890C>T (p.Ala630=) rs144414155 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.50C>T (p.Pro17Leu) rs543241889 0.00003
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.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.4764T>A (p.Asp1588Glu) rs372976069 0.00002
NM_003070.5(SMARCA2):c.704A>C (p.Gln235Pro) rs761147990 0.00002
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly) rs1245060732 0.00001
NM_003070.5(SMARCA2):c.1408G>T (p.Ala470Ser) rs1420651559 0.00001
NM_003070.5(SMARCA2):c.1878-27C>T rs755680577 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.3191C>T (p.Ala1064Val) rs747313863 0.00001
NM_003070.5(SMARCA2):c.3274C>G (p.Leu1092Val) rs755946240 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.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.791-7C>T rs558585794 0.00001
NM_003070.5(SMARCA2):c.816G>A (p.Pro272=) rs1272928913 0.00001
NM_003070.5(SMARCA2):c.873C>T (p.Pro291=) rs1339118310 0.00001
NM_003070.5(SMARCA2):c.902C>T (p.Ala301Val) rs1201671363 0.00001
NM_003070.5(SMARCA2):c.1035G>A (p.Glu345=) rs2130293873
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.1131C>T (p.Thr377=)
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.118G>A (p.Val40Ile)
NM_003070.5(SMARCA2):c.1194C>T (p.Ala398=)
NM_003070.5(SMARCA2):c.1201C>T (p.Arg401Cys) rs1161689441
NM_003070.5(SMARCA2):c.1212G>A (p.Thr404=)
NM_003070.5(SMARCA2):c.1347+206dup rs141158008
NM_003070.5(SMARCA2):c.1347+20T>C
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.1358A>G (p.Asn453Ser)
NM_003070.5(SMARCA2):c.1359C>T (p.Asn453=)
NM_003070.5(SMARCA2):c.1374T>C (p.His458=)
NM_003070.5(SMARCA2):c.1426C>G (p.Leu476Val)
NM_003070.5(SMARCA2):c.1434A>G (p.Lys478=)
NM_003070.5(SMARCA2):c.1521+15G>T
NM_003070.5(SMARCA2):c.1521+16C>T
NM_003070.5(SMARCA2):c.1521+48G>A rs78890392
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.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.1664AGA[3] (p.Lys558del) rs766734761
NM_003070.5(SMARCA2):c.1676GGA[3] (p.Arg562del) rs754525705
NM_003070.5(SMARCA2):c.1680G>A (p.Arg560=)
NM_003070.5(SMARCA2):c.1692+10C>G
NM_003070.5(SMARCA2):c.1692+20T>C
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.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.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.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.1935+23G>T rs370103606
NM_003070.5(SMARCA2):c.1936-10C>T
NM_003070.5(SMARCA2):c.1936-13G>T
NM_003070.5(SMARCA2):c.1968C>T (p.Thr656=)
NM_003070.5(SMARCA2):c.2004A>G (p.Glu668=)
NM_003070.5(SMARCA2):c.2010T>C (p.Ser670=)
NM_003070.5(SMARCA2):c.2019T>C (p.Asp673=)
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.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+145G>A rs12378503
NM_003070.5(SMARCA2):c.225+7G>A
NM_003070.5(SMARCA2):c.226-234AAAC[7] rs111319405
NM_003070.5(SMARCA2):c.226-234AAAC[8] rs111319405
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.2343C>T (p.Pro781=)
NM_003070.5(SMARCA2):c.2348+12C>T
NM_003070.5(SMARCA2):c.2348+312GT[19] rs3057852
NM_003070.5(SMARCA2):c.2348+312GT[20] rs3057852
NM_003070.5(SMARCA2):c.2348+312GT[23] rs3057852
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.2415+18T>G
NM_003070.5(SMARCA2):c.2416-143C>G rs10964682
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.2478C>T (p.Leu826=)
NM_003070.5(SMARCA2):c.2526+11A>G
NM_003070.5(SMARCA2):c.2526+17T>A
NM_003070.5(SMARCA2):c.2526+19A>G
NM_003070.5(SMARCA2):c.2526+214_2526+215insGGTGTG rs1554623530
NM_003070.5(SMARCA2):c.2527-12C>T
NM_003070.5(SMARCA2):c.2550G>T (p.Val850=)
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.2649G>A (p.Pro883=)
NM_003070.5(SMARCA2):c.2770-13G>A
NM_003070.5(SMARCA2):c.27G>A (p.Ala9=)
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.2883+271_2883+281dup rs375056248
NM_003070.5(SMARCA2):c.2883+37dup rs745858512
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+19T>C
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+65dup rs1399459487
NM_003070.5(SMARCA2):c.3078+9G>A
NM_003070.5(SMARCA2):c.3079-139C>T rs116230491
NM_003070.5(SMARCA2):c.3125+13T>C
NM_003070.5(SMARCA2):c.3125+16T>A
NM_003070.5(SMARCA2):c.3126-285T>C rs146706240
NM_003070.5(SMARCA2):c.3159G>A (p.Glu1053=)
NM_003070.5(SMARCA2):c.3192G>T (p.Ala1064=)
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.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.3420A>T (p.Thr1140=)
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.3457-7C>G
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.356-220dup rs763964186
NM_003070.5(SMARCA2):c.3579C>T (p.Asn1193=)
NM_003070.5(SMARCA2):c.3594G>C (p.Val1198=)
NM_003070.5(SMARCA2):c.3648C>T (p.Phe1216=)
NM_003070.5(SMARCA2):c.3661T>C (p.Leu1221=)
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.3729T>A (p.Ile1243=) rs532483020
NM_003070.5(SMARCA2):c.3780G>A (p.Arg1260=) rs777556670
NM_003070.5(SMARCA2):c.3807A>G (p.Lys1269=)
NM_003070.5(SMARCA2):c.3837G>A (p.Glu1279=)
NM_003070.5(SMARCA2):c.3885C>T (p.Thr1295=)
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.3982-1108A>G
NM_003070.5(SMARCA2):c.3982-6G>A
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.4081G>A (p.Val1361Met)
NM_003070.5(SMARCA2):c.4116C>T (p.Pro1372=)
NM_003070.5(SMARCA2):c.4149G>A (p.Leu1383=)
NM_003070.5(SMARCA2):c.4173C>T (p.Ile1391=)
NM_003070.5(SMARCA2):c.4200-131_4200-130insCTT rs200984433
NM_003070.5(SMARCA2):c.4200-57G>A rs3793509
NM_003070.5(SMARCA2):c.4200-5C>T
NM_003070.5(SMARCA2):c.4205A>T (p.Asn1402Ile)
NM_003070.5(SMARCA2):c.4223G>A (p.Ser1408Asn)
NM_003070.5(SMARCA2):c.4239A>G (p.Glu1413=)
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+9C>T rs757009984
NM_003070.5(SMARCA2):c.4254-15T>G
NM_003070.5(SMARCA2):c.4254-20T>C
NM_003070.5(SMARCA2):c.4254-319_4254-317dup rs201698611
NM_003070.5(SMARCA2):c.4254-4A>G
NM_003070.5(SMARCA2):c.4296A>G (p.Ser1432=)
NM_003070.5(SMARCA2):c.4347C>T (p.Phe1449=)
NM_003070.5(SMARCA2):c.4360-16C>T rs142175015
NM_003070.5(SMARCA2):c.4360-9T>A
NM_003070.5(SMARCA2):c.4377T>C (p.His1459=)
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.4500G>C (p.Lys1500Asn)
NM_003070.5(SMARCA2):c.4548C>T (p.Ser1516=)
NM_003070.5(SMARCA2):c.4594+17G>A
NM_003070.5(SMARCA2):c.4594+95C>A rs529473519
NM_003070.5(SMARCA2):c.4595-1G>C
NM_003070.5(SMARCA2):c.4595-261_4595-254del rs139020797
NM_003070.5(SMARCA2):c.4635T>C (p.Asp1545=)
NM_003070.5(SMARCA2):c.4644C>T (p.Gly1548=)
NM_003070.5(SMARCA2):c.4734A>T (p.Glu1578Asp)
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.4738-281del rs147667230
NM_003070.5(SMARCA2):c.4743G>T (p.Gln1581His)
NM_003070.5(SMARCA2):c.4758G>T (p.Gly1586=)
NM_003070.5(SMARCA2):c.4760C>T (p.Thr1587Met)
NM_003070.5(SMARCA2):c.51G>A (p.Pro17=)
NM_003070.5(SMARCA2):c.666_683del (p.Gln233_Gln238del) rs753907033
NM_003070.5(SMARCA2):c.666_686del (p.Gln232_Gln238del) rs748496168
NM_003070.5(SMARCA2):c.667_668insCAG (p.Gln223delinsProGlu) rs2130248310
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[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[18] (p.Gln234_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[3] (p.Gln229_Gln238del) 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.682_683insCGC (p.Gln227_Gln228insPro) rs753013339
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003070.5(SMARCA2):c.695_715del (p.Gln232_Gln238del) rs774133062
NM_003070.5(SMARCA2):c.704_705insACAACAGCAGCC (p.236QQQP[3]) rs1362579661
NM_003070.5(SMARCA2):c.708_722del (p.Gln238_Gln242del) rs757656100
NM_003070.5(SMARCA2):c.750A>T (p.Gln250His) rs62639302
NM_003070.5(SMARCA2):c.761C>T (p.Pro254Leu)
NM_003070.5(SMARCA2):c.791-134_791-133del rs113139565
NM_003070.5(SMARCA2):c.791-19dup
NM_003070.5(SMARCA2):c.791-6C>T rs1586644704
NM_003070.5(SMARCA2):c.807G>C (p.Leu269=)
NM_003070.5(SMARCA2):c.810C>T (p.Ser270=)
NM_003070.5(SMARCA2):c.846G>T (p.Ala282=)
NM_003070.5(SMARCA2):c.849C>A (p.Pro283=)
NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)
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.993C>T (p.Ile331=) rs1819914294
NM_003070.5(SMARCA2):c.9G>A (p.Thr3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.