ClinVar Miner

List of variants in gene SMARCA2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 231
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.3079-11C>G rs1475613138 0.00003
NM_003070.5(SMARCA2):c.1325G>A (p.Arg442Lys) rs752101801 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.1211C>T (p.Thr404Met) rs1402196351 0.00001
NM_003070.5(SMARCA2):c.1625A>G (p.Asn542Ser) rs767419753 0.00001
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu) rs199989401 0.00001
NM_003070.5(SMARCA2):c.2425G>C (p.Ala809Pro) rs886351989 0.00001
NM_003070.5(SMARCA2):c.2527-3T>C rs781267277 0.00001
NM_003070.5(SMARCA2):c.2878G>A (p.Glu960Lys) rs1294074487 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003070.5(SMARCA2):c.4508G>A (p.Arg1503Gln) rs763271526 0.00001
NM_003070.5(SMARCA2):c.710A>C (p.Gln237Pro) rs1475414100 0.00001
NM_003070.5(SMARCA2):c.763G>A (p.Ala255Thr) rs745669287 0.00001
NM_003070.5(SMARCA2):c.869C>T (p.Ala290Val) rs1284404989 0.00001
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) rs1417006108 0.00001
GRCh37/hg19 9p24.3(chr9:1894473-2017932)x1
GRCh37/hg19 9p24.3(chr9:2130392-2185324)x1
GRCh37/hg19 9p24.3-24.2(chr9:1627292-2217469)x3
GRCh37/hg19 9p24.3-24.2(chr9:2084116-2582828)x1
NC_000009.11:g.(?_2170399)_(2170492_?)del
NC_000009.11:g.(?_2181551)_(2192739_?)del
NM_003070.5(SMARCA2):c.1014C>A (p.Asp338Glu)
NM_003070.5(SMARCA2):c.1018G>T (p.Val340Leu)
NM_003070.5(SMARCA2):c.113G>A (p.Gly38Asp)
NM_003070.5(SMARCA2):c.1156C>G (p.Leu386Val)
NM_003070.5(SMARCA2):c.1181A>G (p.Gln394Arg) rs1243149775
NM_003070.5(SMARCA2):c.1226C>G (p.Ala409Gly) rs2130344304
NM_003070.5(SMARCA2):c.1232A>G (p.Asn411Ser) rs1820371484
NM_003070.5(SMARCA2):c.1235C>A (p.Ser412Tyr)
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003070.5(SMARCA2):c.1249C>T (p.Arg417Trp)
NM_003070.5(SMARCA2):c.1265C>G (p.Thr422Ser)
NM_003070.5(SMARCA2):c.1279C>T (p.Arg427Cys) rs1820373261
NM_003070.5(SMARCA2):c.130A>G (p.Met44Val)
NM_003070.5(SMARCA2):c.1347+4C>T
NM_003070.5(SMARCA2):c.1378A>G (p.Lys460Glu) rs1445038399
NM_003070.5(SMARCA2):c.1388A>G (p.Lys463Arg)
NM_003070.5(SMARCA2):c.1436C>T (p.Ala479Val) rs2130352140
NM_003070.5(SMARCA2):c.143C>G (p.Pro48Arg)
NM_003070.5(SMARCA2):c.1488G>C (p.Glu496Asp)
NM_003070.5(SMARCA2):c.1489C>A (p.Arg497=)
NM_003070.5(SMARCA2):c.154A>G (p.Ser52Gly)
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.1608T>A (p.Tyr536Ter)
NM_003070.5(SMARCA2):c.1670A>G (p.Lys557Arg)
NM_003070.5(SMARCA2):c.1685G>A (p.Arg562Lys)
NM_003070.5(SMARCA2):c.1692+4C>G
NM_003070.5(SMARCA2):c.1726G>A (p.Ala576Thr)
NM_003070.5(SMARCA2):c.1758G>C (p.Glu586Asp)
NM_003070.5(SMARCA2):c.1804A>G (p.Thr602Ala)
NM_003070.5(SMARCA2):c.182G>C (p.Gly61Ala) rs754667442
NM_003070.5(SMARCA2):c.1877+7C>T
NM_003070.5(SMARCA2):c.1881T>A (p.Tyr627Ter)
NM_003070.5(SMARCA2):c.1883A>C (p.Glu628Ala)
NM_003070.5(SMARCA2):c.1888G>A (p.Ala630Thr)
NM_003070.5(SMARCA2):c.1931A>C (p.Glu644Ala) rs2130427978
NM_003070.5(SMARCA2):c.1936-12T>A rs2130439407
NM_003070.5(SMARCA2):c.193T>C (p.Phe65Leu)
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
NM_003070.5(SMARCA2):c.1952C>A (p.Ser651Tyr)
NM_003070.5(SMARCA2):c.1967C>T (p.Thr656Ile)
NM_003070.5(SMARCA2):c.196C>G (p.Pro66Ala)
NM_003070.5(SMARCA2):c.2009C>G (p.Ser670Cys)
NM_003070.5(SMARCA2):c.2027A>T (p.Gln676Leu)
NM_003070.5(SMARCA2):c.2068A>G (p.Ser690Gly)
NM_003070.5(SMARCA2):c.2078A>G (p.Tyr693Cys)
NM_003070.5(SMARCA2):c.2082T>G (p.Ser694Arg) rs1263255821
NM_003070.5(SMARCA2):c.209T>A (p.Met70Lys) rs2130179805
NM_003070.5(SMARCA2):c.229A>G (p.Ile77Val)
NM_003070.5(SMARCA2):c.2306A>G (p.His769Arg)
NM_003070.5(SMARCA2):c.2341C>T (p.Pro781Ser)
NM_003070.5(SMARCA2):c.2376T>A (p.Phe792Leu)
NM_003070.5(SMARCA2):c.238A>G (p.Ile80Val)
NM_003070.5(SMARCA2):c.2398G>A (p.Val800Met)
NM_003070.5(SMARCA2):c.2401A>G (p.Lys801Glu)
NM_003070.5(SMARCA2):c.2415+3T>C
NM_003070.5(SMARCA2):c.2420C>T (p.Thr807Ile) rs1554623478
NM_003070.5(SMARCA2):c.2476C>G (p.Leu826Val)
NM_003070.5(SMARCA2):c.248A>C (p.Lys83Thr)
NM_003070.5(SMARCA2):c.251G>A (p.Gly84Glu) rs1007247960
NM_003070.5(SMARCA2):c.2526+1G>A
NM_003070.5(SMARCA2):c.2527A>T (p.Ile843Phe) rs2130486187
NM_003070.5(SMARCA2):c.2569A>G (p.Lys857Glu)
NM_003070.5(SMARCA2):c.2595G>A (p.Gln865=)
NM_003070.5(SMARCA2):c.2770-3C>T
NM_003070.5(SMARCA2):c.2792C>G (p.Thr931Ser) rs2130492796
NM_003070.5(SMARCA2):c.2794A>T (p.Ile932Leu) rs1131692008
NM_003070.5(SMARCA2):c.2932T>C (p.Tyr978His) rs2130525796
NM_003070.5(SMARCA2):c.2939A>G (p.His980Arg) rs2130525863
NM_003070.5(SMARCA2):c.2991+4C>T
NM_003070.5(SMARCA2):c.2991+5G>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+5A>G
NM_003070.5(SMARCA2):c.3134T>C (p.Leu1045Pro)
NM_003070.5(SMARCA2):c.3140G>A (p.Arg1047Gln)
NM_003070.5(SMARCA2):c.3169C>T (p.Arg1057Cys)
NM_003070.5(SMARCA2):c.316A>G (p.Met106Val)
NM_003070.5(SMARCA2):c.3265C>T (p.Arg1089Trp) rs766894963
NM_003070.5(SMARCA2):c.3283C>T (p.Arg1095Cys)
NM_003070.5(SMARCA2):c.3292G>C (p.Gly1098Arg)
NM_003070.5(SMARCA2):c.3303G>C (p.Lys1101Asn)
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
NM_003070.5(SMARCA2):c.334C>T (p.Pro112Ser) rs2130202272
NM_003070.5(SMARCA2):c.3368T>G (p.Leu1123Trp)
NM_003070.5(SMARCA2):c.3379A>G (p.Arg1127Gly) rs1586715646
NM_003070.5(SMARCA2):c.337A>C (p.Met113Leu)
NM_003070.5(SMARCA2):c.3391del (p.Leu1131fs)
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) rs886041299
NM_003070.5(SMARCA2):c.3448C>T (p.Pro1150Ser)
NM_003070.5(SMARCA2):c.344A>T (p.Gln115Leu) rs1218358072
NM_003070.5(SMARCA2):c.3458A>T (p.Asp1153Val)
NM_003070.5(SMARCA2):c.3519G>T (p.Arg1173Ser) rs2130599717
NM_003070.5(SMARCA2):c.3579C>A (p.Asn1193Lys)
NM_003070.5(SMARCA2):c.3607A>G (p.Met1203Val)
NM_003070.5(SMARCA2):c.3609G>A (p.Met1203Ile)
NM_003070.5(SMARCA2):c.3615C>G (p.Asp1205Glu) rs2130600052
NM_003070.5(SMARCA2):c.3644C>T (p.Ala1215Val)
NM_003070.5(SMARCA2):c.373C>T (p.Pro125Ser)
NM_003070.5(SMARCA2):c.3770A>C (p.Asp1257Ala)
NM_003070.5(SMARCA2):c.3779G>A (p.Arg1260Gln) rs2130626217
NM_003070.5(SMARCA2):c.3785G>C (p.Arg1262Thr)
NM_003070.5(SMARCA2):c.3796C>G (p.Arg1266Gly) rs768875248
NM_003070.5(SMARCA2):c.3844T>C (p.Ser1282Pro)
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr)
NM_003070.5(SMARCA2):c.3894A>C (p.Glu1298Asp) rs141291951
NM_003070.5(SMARCA2):c.3932G>C (p.Arg1311Pro)
NM_003070.5(SMARCA2):c.3940G>A (p.Val1314Met) rs1823574246
NM_003070.5(SMARCA2):c.3982-4A>T rs2129640514
NM_003070.5(SMARCA2):c.3988G>A (p.Glu1330Lys)
NM_003070.5(SMARCA2):c.4045C>G (p.Arg1349Gly)
NM_003070.5(SMARCA2):c.4067C>T (p.Pro1356Leu)
NM_003070.5(SMARCA2):c.4103G>A (p.Arg1368Lys) rs1825693531
NM_003070.5(SMARCA2):c.413T>C (p.Met138Thr) rs1316822781
NM_003070.5(SMARCA2):c.4147C>A (p.Leu1383Met)
NM_003070.5(SMARCA2):c.4148T>C (p.Leu1383Pro)
NM_003070.5(SMARCA2):c.4157_4166del (p.Gln1386fs) rs2129641411
NM_003070.5(SMARCA2):c.4196A>G (p.Asp1399Gly)
NM_003070.5(SMARCA2):c.4199+8_4199+9delinsAG
NM_003070.5(SMARCA2):c.4212G>T (p.Glu1404Asp) rs2129725271
NM_003070.5(SMARCA2):c.4234T>C (p.Leu1412=)
NM_003070.5(SMARCA2):c.4237G>A (p.Glu1413Lys)
NM_003070.5(SMARCA2):c.4243G>A (p.Glu1415Lys)
NM_003070.5(SMARCA2):c.4253+3C>T rs1826189320
NM_003070.5(SMARCA2):c.4254-3C>T rs2129875725
NM_003070.5(SMARCA2):c.4275A>G (p.Glu1425=) rs1309967815
NM_003070.5(SMARCA2):c.4281_4296dup (p.Arg1433fs)
NM_003070.5(SMARCA2):c.4283_4286del (p.Ile1428fs) rs2129876075
NM_003070.5(SMARCA2):c.4286A>G (p.Gln1429Arg)
NM_003070.5(SMARCA2):c.4294_4330dup (p.Arg1444delinsIleLysGluArgIleThrArgIleLeuTer)
NM_003070.5(SMARCA2):c.4300A>G (p.Lys1434Glu)
NM_003070.5(SMARCA2):c.4359+5A>G
NM_003070.5(SMARCA2):c.4359+6T>C
NM_003070.5(SMARCA2):c.4364G>C (p.Arg1455Thr) rs1057519094
NM_003070.5(SMARCA2):c.4366A>G (p.Ile1456Val)
NM_003070.5(SMARCA2):c.4370G>A (p.Arg1457His) rs1264921290
NM_003070.5(SMARCA2):c.4377T>A (p.His1459Gln)
NM_003070.5(SMARCA2):c.4381T>C (p.Tyr1461His)
NM_003070.5(SMARCA2):c.4384C>G (p.Arg1462Gly)
NM_003070.5(SMARCA2):c.4471G>C (p.Asp1491His)
NM_003070.5(SMARCA2):c.4488G>C (p.Gln1496His)
NM_003070.5(SMARCA2):c.4528G>C (p.Glu1510Gln) rs2129941206
NM_003070.5(SMARCA2):c.4540G>C (p.Asp1514His)
NM_003070.5(SMARCA2):c.4548_4556dup (p.Glu1518_Glu1519insAspAsnGlu)
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.4560GGAAGA[3] (p.Glu1523_Asp1524insGluGlu)
NM_003070.5(SMARCA2):c.4572_4577del (p.Asp1524_Glu1525del) rs1229249653
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
NM_003070.5(SMARCA2):c.4583C>T (p.Ser1528Leu)
NM_003070.5(SMARCA2):c.4585G>C (p.Glu1529Gln)
NM_003070.5(SMARCA2):c.4591G>A (p.Glu1531Lys)
NM_003070.5(SMARCA2):c.4595-11T>A rs2130003508
NM_003070.5(SMARCA2):c.4600T>A (p.Ser1534Thr)
NM_003070.5(SMARCA2):c.4607A>C (p.Lys1536Thr)
NM_003070.5(SMARCA2):c.4634A>T (p.Asp1545Val) rs1827864772
NM_003070.5(SMARCA2):c.463G>T (p.Ala155Ser)
NM_003070.5(SMARCA2):c.4644_4655del (p.Arg1549_Gly1552del)
NM_003070.5(SMARCA2):c.4663_4672del (p.Lys1555fs)
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) rs1827870545
NM_003070.5(SMARCA2):c.4712A>G (p.Asp1571Gly)
NM_003070.5(SMARCA2):c.472C>T (p.Pro158Ser)
NM_003070.5(SMARCA2):c.4735C>T (p.Arg1579Cys)
NM_003070.5(SMARCA2):c.4738-7C>T rs1554646789
NM_003070.5(SMARCA2):c.4750G>T (p.Gly1584Ter)
NM_003070.5(SMARCA2):c.475G>C (p.Gly159Arg)
NM_003070.5(SMARCA2):c.497A>G (p.Gln166Arg) rs1042651235
NM_003070.5(SMARCA2):c.508G>C (p.Gly170Arg) rs2130246879
NM_003070.5(SMARCA2):c.53G>A (p.Gly18Glu)
NM_003070.5(SMARCA2):c.583G>C (p.Gly195Arg) rs1201596045
NM_003070.5(SMARCA2):c.655C>T (p.Gln219Ter)
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[9] (p.Gln235_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669delinsACAGCAGCAGCAA (p.Gln238_Pro239insGlnGlnGlnGln)
NM_003070.5(SMARCA2):c.677_678insACAGCA (p.Gln238_Pro239insGlnGln)
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003070.5(SMARCA2):c.686_715del (p.Gln229_Gln238del)
NM_003070.5(SMARCA2):c.723_734dup (p.Gln245_Pro246insGlnProProGln)
NM_003070.5(SMARCA2):c.750ACA[1] (p.Gln253del)
NM_003070.5(SMARCA2):c.751C>A (p.Gln251Lys)
NM_003070.5(SMARCA2):c.77T>C (p.Ile26Thr)
NM_003070.5(SMARCA2):c.782G>C (p.Arg261Thr)
NM_003070.5(SMARCA2):c.811G>C (p.Gly271Arg)
NM_003070.5(SMARCA2):c.815C>T (p.Pro272Leu)
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.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.879_896del (p.Gln296_Ala301del)
NM_003070.5(SMARCA2):c.885_902del (p.Gln296_Ala301del)
NM_003070.5(SMARCA2):c.910G>T (p.Gly304Trp)
NM_003070.5(SMARCA2):c.913C>T (p.Pro305Ser)
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)

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