ClinVar Miner

List of variants reported as likely pathogenic for not specified

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ClinVar version:
Total variants: 129
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HGVS dbSNP
GRCh37/hg19 18q21.2(chr18:53290008-53383013)x1
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1183-15A>G rs765390290
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000020.2(ACVRL1):c.1270C>T (p.Pro424Ser) rs1085307419
NM_000020.2(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000088.3(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.3(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.3(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
NM_000118.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_000132.3(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000138.4(FBN1):c.1825C>T (p.Arg609Cys) rs772574901
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000244.3(MEN1):c.1406del (p.Ala469fs) rs1555163858
NM_000244.3(MEN1):c.1679G>A (p.Ser560Asn) rs863224527
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.3764_3766CCA[1] (p.Thr1256del) rs397516040
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000314.7(PTEN):c.635-1G>T rs876661024
NM_000314.7(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000321.2(RB1):c.1390-2A>G rs1555286568
NM_000335.4(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211
NM_000355.4(TCN2):c.766_767dup (p.Met258fs) rs1555895069
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.3(CFTR):c.1210-2_1210-1del rs1562894926
NM_000492.3(CFTR):c.1328_1329AT[1] (p.Asp443_Ile444insTer) rs397508190
NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) rs397508273
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.3(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.3(CFTR):c.2573del (p.Ser858fs) rs1562908997
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2988+1G>T rs75096551
NM_000492.3(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro) rs397508572
NM_000492.3(CFTR):c.3546C>G (p.Tyr1182Ter) rs397508581
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.3(CFTR):c.4307_4320del (p.Leu1436fs) rs1562929573
NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.619C>T (p.Gln207Ter) rs397508771
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000495.5(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_000495.5(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala) rs761308217
NM_000546.5(TP53):c.557_559+2delinsGGGG rs1567552467
NM_000546.5(TP53):c.559+2del rs1567552459
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.869G>T (p.Arg290Leu) rs55819519
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_001006657.2(WDR35):c.3203A>G (p.Tyr1068Cys) rs541910371
NM_001006657.2(WDR35):c.322_323GA[3] (p.Met109fs) rs745486923
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001077488.4(GNAS):c.1009dup (p.Arg337fs) rs1569031388
NM_001256627.2(BRSK2):c.1530_1531AG[1] (p.Glu511fs) rs1135402760
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu) rs1554904772
NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs) rs1553526134
NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs) rs1553526116
NM_001278074.1(COL5A1):c.1496G>C (p.Gly499Ala) rs1554792005
NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter) rs1192554889
NM_001370658.1(BTD):c.248del (p.Lys83fs) rs1553652177
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001770.5(CD19):c.1303+1G>C rs372929312
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) rs1555167372
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) rs1555165237
NM_001943.5(DSG2):c.1652-1G>A rs1382430464
NM_001972.4(ELANE):c.641G>T (p.Gly214Val) rs1555710089
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)
NM_002693.2(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro) rs1554499091
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_007103.4(NDUFV1):c.155+1G>A rs1565224383
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299
NM_007272.3(CTRC):c.640-12G>A rs183053579
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_015404.3(WHRN):c.837+1delG rs749910508
NM_015678.4(NBEA):c.2836C>T (p.His946Tyr) rs869312667
NM_015678.4(NBEA):c.6637C>T (p.Arg2213Ter) rs878853169
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs) rs1332576936
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) rs1305675114
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.261C>A (p.Cys87Ter) rs775479779

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