ClinVar Miner

List of variants studied for connective and soft tissue neoplasm by Baylor Genetics

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu) rs142754204 0.00157
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu) rs371045201 0.00007
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val) rs756474511 0.00006
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln) rs375672575 0.00005
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val) rs372562244 0.00005
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr) rs371214327 0.00004
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val) rs767638396 0.00004
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser) rs766474711 0.00004
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val) rs777647740 0.00004
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser) rs373590049 0.00004
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu) rs746219091 0.00004
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp) rs766797299 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr) rs776672640 0.00003
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln) rs143950084 0.00003
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr) rs374722116 0.00003
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu) rs1368858108 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774 0.00002
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val) rs878854196 0.00002
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln) rs1050237 0.00002
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn) rs772752194 0.00002
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met) rs766237791 0.00002
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met) rs372893370 0.00002
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val) rs148115492 0.00002
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu) rs778071122 0.00002
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met) rs768522438 0.00002
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg) rs775843321 0.00002
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met) rs2046938247 0.00001
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His) rs1018881303 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val) rs587778680 0.00001
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu) rs747463080 0.00001
NM_003072.5(SMARCA4):c.2124-5C>A rs182602020 0.00001
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln) rs1060502059 0.00001
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg) rs1291938544 0.00001
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg) rs140176945 0.00001
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg) rs1288014090 0.00001
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val) rs1221798183 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys) rs587778681 0.00001
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His) rs377573682 0.00001
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His) rs1389184364 0.00001
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp) rs1303089960 0.00001
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met) rs1568565611 0.00001
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln) rs1484835507 0.00001
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu) rs756255060 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.4911+5G>A rs534705500 0.00001
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys) rs776222414 0.00001
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln) rs769756381 0.00001
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg) rs769414440 0.00001
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser) rs767947665 0.00001
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val) rs763054014 0.00001
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser) rs1304026031 0.00001
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu) rs910095001 0.00001
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met) rs1361910224 0.00001
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met) rs776693680 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) rs1034848904 0.00001
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) rs1765495276
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000435.3(NOTCH3):c.5114+11T>G rs2046721049
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg) rs45517154
NM_003072.5(SMARCA4):c.1064del (p.Ile355fs)
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro) rs1599929325
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly) rs1555750818
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val) rs1060502081
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile) rs765325777
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu) rs375812959
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr) rs2086530559
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met) rs1265247876
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr) rs1369374541
NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs) rs2087041072
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del) rs1429065030
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del) rs1484395538
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val) rs1600132436
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) rs1555768365
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp) rs772356536
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
NM_003072.5(SMARCA4):c.2062A>T (p.Lys688Ter)
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys) rs779627018
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile) rs1568493644
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg) rs1060502074
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val) rs773526113
NM_003072.5(SMARCA4):c.3216-346C>T
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln) rs1568498301
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr) rs1175163671
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu) rs1555752859
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His) rs1060502060
NM_003072.5(SMARCA4):c.3774+2T>G
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His) rs2075174391
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys) rs199962502
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys) rs864622722
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr) rs1377505488
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) rs1555795063
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His) rs1600635111
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu) rs374983142
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val) rs2145775018
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro) rs1555796035
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln) rs878854233
NM_003072.5(SMARCA4):c.4910_4911+1del rs745740277
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val) rs1599951271
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro) rs1057422480
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10]) rs372601826
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala) rs797045988
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del) rs1555754225
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser) rs199573401
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu) rs1026742588
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile) rs748459210
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu) rs762139955
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=) rs371214843
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile) rs1568426962
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val) rs1231539032
NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs) rs2030790572
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del) rs769579890
NM_003073.5(SMARCB1):c.232+59A>G
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val) rs762676176
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029
NM_177438.3(DICER1):c.2069C>A (p.Ala690Asp) rs2140077900

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