ClinVar Miner

List of variants in gene SMARCA4 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 181
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HGVS dbSNP
NC_000019.10:g.10960884G>T
NM_001128849.2(SMARCA4):c.*19C>T rs199852385
NM_001128849.2(SMARCA4):c.*9A>T rs369766168
NM_001128849.2(SMARCA4):c.-43C>T rs574982898
NM_001128849.2(SMARCA4):c.1017C>T (p.Pro339=) rs772609063
NM_001128849.2(SMARCA4):c.1044G>A (p.Lys348=) rs566093923
NM_001128849.2(SMARCA4):c.1099C>T (p.Leu367=) rs372379166
NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.2(SMARCA4):c.1119-12C>T rs113870824
NM_001128849.2(SMARCA4):c.1140C>T (p.His380=) rs114594206
NM_001128849.2(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_001128849.2(SMARCA4):c.1236C>T (p.Phe412=) rs140000691
NM_001128849.2(SMARCA4):c.1245+19G>T rs552713877
NM_001128849.2(SMARCA4):c.1413G>A (p.Lys471=) rs17001073
NM_001128849.2(SMARCA4):c.1419+203G>A
NM_001128849.2(SMARCA4):c.1419+4C>T rs370219784
NM_001128849.2(SMARCA4):c.1419+7T>C rs112977340
NM_001128849.2(SMARCA4):c.1419+8C>T rs115492175
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.2(SMARCA4):c.147G>A (p.Pro49=) rs758438795
NM_001128849.2(SMARCA4):c.1482A>G (p.Thr494=) rs1060504463
NM_001128849.2(SMARCA4):c.1509A>G (p.Ala503=) rs17001075
NM_001128849.2(SMARCA4):c.1518G>A (p.Thr506=) rs145369952
NM_001128849.2(SMARCA4):c.1524T>C (p.His508=) rs7935
NM_001128849.2(SMARCA4):c.1557C>T (p.Asn519=) rs2288845
NM_001128849.2(SMARCA4):c.1593+14T>A rs201395711
NM_001128849.2(SMARCA4):c.1594-99T>C
NM_001128849.2(SMARCA4):c.1740A>G (p.Lys580=) rs114391904
NM_001128849.2(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_001128849.2(SMARCA4):c.1762-12C>T rs759160355
NM_001128849.2(SMARCA4):c.1762-37T>C
NM_001128849.2(SMARCA4):c.1791T>G (p.Pro597=) rs141806282
NM_001128849.2(SMARCA4):c.1813-185G>A
NM_001128849.2(SMARCA4):c.1813-19A>G rs373986576
NM_001128849.2(SMARCA4):c.1813-54T>C
NM_001128849.2(SMARCA4):c.1815T>C (p.Pro605=) rs1034540403
NM_001128849.2(SMARCA4):c.1943+67G>A
NM_001128849.2(SMARCA4):c.1944-12C>T rs149763341
NM_001128849.2(SMARCA4):c.1944-19G>T rs74942410
NM_001128849.2(SMARCA4):c.1944-5dup rs1555768671
NM_001128849.2(SMARCA4):c.1968T>C (p.Asp656=) rs750161079
NM_001128849.2(SMARCA4):c.2001+133C>T
NM_001128849.2(SMARCA4):c.2001+8T>G rs112549813
NM_001128849.2(SMARCA4):c.2002-19T>C rs111899994
NM_001128849.2(SMARCA4):c.2002-20A>C rs369922926
NM_001128849.2(SMARCA4):c.2002-4G>A rs746254916
NM_001128849.2(SMARCA4):c.2022G>T (p.Pro674=) rs539865173
NM_001128849.2(SMARCA4):c.2049C>T (p.Pro683=) rs138878490
NM_001128849.2(SMARCA4):c.2123+12C>T rs17001090
NM_001128849.2(SMARCA4):c.2124-120C>T
NM_001128849.2(SMARCA4):c.2143G>A (p.Asp715Asn) rs1131691371
NM_001128849.2(SMARCA4):c.222+14T>C rs112825147
NM_001128849.2(SMARCA4):c.222+18C>T rs180832203
NM_001128849.2(SMARCA4):c.223-11C>G rs1555751898
NM_001128849.2(SMARCA4):c.223-239T>C
NM_001128849.2(SMARCA4):c.223-53T>C
NM_001128849.2(SMARCA4):c.223-7C>G rs762146990
NM_001128849.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.2287G>T (p.Glu763Ter) rs1555774631
NM_001128849.2(SMARCA4):c.2316C>T (p.Asn772=) rs770548403
NM_001128849.2(SMARCA4):c.2388C>T (p.Leu796=) rs28997580
NM_001128849.2(SMARCA4):c.2409T>C (p.Asn803=) rs199634608
NM_001128849.2(SMARCA4):c.2438C>T (p.Ser813Leu) rs1064795105
NM_001128849.2(SMARCA4):c.2439-33C>T
NM_001128849.2(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282
NM_001128849.2(SMARCA4):c.2476G>A (p.Ala826Thr) rs1057524313
NM_001128849.2(SMARCA4):c.2506-14T>C rs751003991
NM_001128849.2(SMARCA4):c.2541G>C (p.Gln847His) rs1064796361
NM_001128849.2(SMARCA4):c.2593A>G (p.Lys865Glu) rs1057524208
NM_001128849.2(SMARCA4):c.2616+54G>A
NM_001128849.2(SMARCA4):c.2617-5C>T rs377743250
NM_001128849.2(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_001128849.2(SMARCA4):c.2654G>A (p.Arg885His) rs1064794284
NM_001128849.2(SMARCA4):c.2672G>A (p.Cys891Tyr) rs1555778709
NM_001128849.2(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_001128849.2(SMARCA4):c.2806T>A (p.Cys936Ser) rs1555778812
NM_001128849.2(SMARCA4):c.2850C>T (p.Thr950=) rs141259126
NM_001128849.2(SMARCA4):c.2860-104A>G
NM_001128849.2(SMARCA4):c.2900G>C (p.Arg967Pro) rs1085307769
NM_001128849.2(SMARCA4):c.2932C>G (p.Arg978Gly) rs1064796254
NM_001128849.2(SMARCA4):c.296G>A (p.Arg99Gln) rs745406632
NM_001128849.2(SMARCA4):c.2973+14G>A rs372877301
NM_001128849.2(SMARCA4):c.2974-255G>A
NM_001128849.2(SMARCA4):c.2994C>T (p.Cys998=) rs1028929208
NM_001128849.2(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423
NM_001128849.2(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403
NM_001128849.2(SMARCA4):c.3070A>G (p.Lys1024Glu) rs1057524559
NM_001128849.2(SMARCA4):c.3168+131C>T
NM_001128849.2(SMARCA4):c.3168+13C>T rs535641983
NM_001128849.2(SMARCA4):c.3168+31C>G rs2075021
NM_001128849.2(SMARCA4):c.3169-119C>T
NM_001128849.2(SMARCA4):c.3215+113T>C
NM_001128849.2(SMARCA4):c.3216-168A>G
NM_001128849.2(SMARCA4):c.335C>T (p.Pro112Leu) rs1057523400
NM_001128849.2(SMARCA4):c.3380A>G (p.Asp1127Gly) rs1057521113
NM_001128849.2(SMARCA4):c.3443_3448delinsGGC (p.Glu1148_Phe1150delinsGlyLeu) rs1064794535
NM_001128849.2(SMARCA4):c.3516C>T (p.Ile1172=) rs769327965
NM_001128849.2(SMARCA4):c.3547-11T>C rs190104006
NM_001128849.2(SMARCA4):c.3547-155C>G
NM_001128849.2(SMARCA4):c.3556G>A (p.Ala1186Thr) rs1085307556
NM_001128849.2(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802
NM_001128849.2(SMARCA4):c.356-14A>G rs111447132
NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_001128849.2(SMARCA4):c.3577A>G (p.Ile1193Val) rs1555784468
NM_001128849.2(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001128849.2(SMARCA4):c.3641T>C (p.Ile1214Thr) rs1064796885
NM_001128849.2(SMARCA4):c.3645A>G (p.Leu1215=) rs1555784535
NM_001128849.2(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957
NM_001128849.2(SMARCA4):c.3724G>A (p.Glu1242Lys) rs1555784586
NM_001128849.2(SMARCA4):c.3728G>A (p.Arg1243Gln) rs1064795161
NM_001128849.2(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231
NM_001128849.2(SMARCA4):c.3774+20C>T rs377640724
NM_001128849.2(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410
NM_001128849.2(SMARCA4):c.3873+5G>C rs1057522951
NM_001128849.2(SMARCA4):c.3873+6del rs751936459
NM_001128849.2(SMARCA4):c.3951+1G>A rs1555785054
NM_001128849.2(SMARCA4):c.3951+6C>T rs759241380
NM_001128849.2(SMARCA4):c.3952-11C>T rs1555785321
NM_001128849.2(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149
NM_001128849.2(SMARCA4):c.4032C>A (p.Pro1344=) rs745307333
NM_001128849.2(SMARCA4):c.4050C>T (p.Asp1350=) rs575792225
NM_001128849.2(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582
NM_001128849.2(SMARCA4):c.4170+16G>A rs191812860
NM_001128849.2(SMARCA4):c.4170+17C>T rs145829956
NM_001128849.2(SMARCA4):c.4170+45G>A
NM_001128849.2(SMARCA4):c.417G>A (p.Pro139=) rs142092395
NM_001128849.2(SMARCA4):c.4187A>T (p.Asp1396Val) rs186823009
NM_001128849.2(SMARCA4):c.4266+17T>A rs199543083
NM_001128849.2(SMARCA4):c.4267-13A>G rs201298366
NM_001128849.2(SMARCA4):c.4272C>T (p.Ile1424=) rs767494921
NM_001128849.2(SMARCA4):c.4309C>T (p.Arg1437Trp) rs1057518049
NM_001128849.2(SMARCA4):c.4323A>G (p.Ser1441=) rs61761958
NM_001128849.2(SMARCA4):c.4368G>A (p.Pro1456=) rs114882905
NM_001128849.2(SMARCA4):c.4398C>T (p.Asp1466=) rs146747026
NM_001128849.2(SMARCA4):c.441C>T (p.Ser147=) rs201372858
NM_001128849.2(SMARCA4):c.4425C>T (p.Arg1475=) rs373999751
NM_001128849.2(SMARCA4):c.4521-133G>A
NM_001128849.2(SMARCA4):c.4521-35A>G
NM_001128849.2(SMARCA4):c.4532G>A (p.Arg1511His) rs1057523566
NM_001128849.2(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.2(SMARCA4):c.4608C>T (p.Pro1536=) rs145435121
NM_001128849.2(SMARCA4):c.4622del (p.Lys1541fs) rs1555795091
NM_001128849.2(SMARCA4):c.4632G>A (p.Glu1544=) rs774583744
NM_001128849.2(SMARCA4):c.4654C>T (p.Arg1552Cys) rs1057523119
NM_001128849.2(SMARCA4):c.4665C>T (p.Asn1555=) rs34389675
NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001128849.2(SMARCA4):c.4681G>A (p.Val1561Ile) rs777829717
NM_001128849.2(SMARCA4):c.4720G>C (p.Glu1574Gln) rs1057523176
NM_001128849.2(SMARCA4):c.4731+11C>T rs369785711
NM_001128849.2(SMARCA4):c.4731+12G>A rs34930626
NM_001128849.2(SMARCA4):c.4760C>T (p.Ser1587Leu) rs1057523990
NM_001128849.2(SMARCA4):c.4819_4845del (p.Ser1607_Glu1615del) rs1555795951
NM_001128849.2(SMARCA4):c.4854C>T (p.Ser1618=) rs199723473
NM_001128849.2(SMARCA4):c.4860C>T (p.Ser1620=) rs754496173
NM_001128849.2(SMARCA4):c.4864+10G>A rs201665695
NM_001128849.2(SMARCA4):c.4864+15G>C rs113131294
NM_001128849.2(SMARCA4):c.4864+16G>T rs151265814
NM_001128849.2(SMARCA4):c.4865-44A>G
NM_001128849.2(SMARCA4):c.4944G>A (p.Pro1648=) rs370590601
NM_001128849.2(SMARCA4):c.4983T>C (p.Asp1661=) rs7275
NM_001128849.2(SMARCA4):c.5008-161G>A
NM_001128849.2(SMARCA4):c.5028C>T (p.Ser1676=) rs139335250
NM_001128849.2(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.2(SMARCA4):c.591C>A (p.Pro197=) rs572753619
NM_001128849.2(SMARCA4):c.690C>T (p.Pro230=) rs372941839
NM_001128849.2(SMARCA4):c.6C>T (p.Ser2=) rs1555750570
NM_001128849.2(SMARCA4):c.708T>C (p.Pro236=) rs62639303
NM_001128849.2(SMARCA4):c.726C>T (p.Pro242=) rs578260605
NM_001128849.2(SMARCA4):c.747C>T (p.Tyr249=) rs756224211
NM_001128849.2(SMARCA4):c.761-14C>T rs1555754096
NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502
NM_001128849.2(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842
NM_001128849.2(SMARCA4):c.788dup (p.Gly264fs) rs1555754177
NM_001128849.2(SMARCA4):c.801C>T (p.Gly267=) rs539124305
NM_001128849.2(SMARCA4):c.828T>A (p.Pro276=) rs1057523267
NM_001128849.2(SMARCA4):c.859+7T>A rs141461778
NM_001128849.2(SMARCA4):c.860-19G>T rs779390573
NM_001128849.2(SMARCA4):c.888G>A (p.Thr296=) rs545237924
NM_001128849.2(SMARCA4):c.915G>A (p.Pro305=) rs149573400
NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=) rs146141457
NM_001128849.2(SMARCA4):c.981A>C (p.Pro327=) rs547268941

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