ClinVar Miner

List of variants in gene ELP1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003640.5(ELP1):c.1361-1G>T rs372225464 0.00001
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) rs761911009 0.00001
NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter) rs768015419 0.00001
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) rs762224071 0.00001
NM_003640.5(ELP1):c.707_711dup (p.Ala238fs) rs1390547777 0.00001
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter) rs1317221906 0.00001
NM_003640.5(ELP1):c.969G>A (p.Trp323Ter) rs1829266738 0.00001
NC_000009.11:g.(111644468_111651611)_(111696613_?)del
NC_000009.11:g.(?_111631385)_(111663971_?)del
NC_000009.11:g.(?_111642322)_(111644477_?)del
NC_000009.11:g.(?_111658756)_(111670704_?)del
NC_000009.11:g.(?_111665109)_(111665959_?)del
NC_000009.11:g.(?_111673280)_(111679960_?)del
NC_000009.11:g.(?_111679817)_(111679960_?)del
NC_000009.11:g.(?_111681081)_(111681639_?)del
NC_000009.11:g.(?_111692039)_(111693436_?)del
NC_000009.12:g.(?_108877985)_(108931156_?)del
NC_000009.12:g.(?_108930987)_(108931156_?)del
NC_000009.12:g.108902941CT[1]
NC_000009.12:g.108929922del
NM_003640.5(ELP1):c.1052G>A (p.Trp351Ter) rs2132016798
NM_003640.5(ELP1):c.1052_1055dup (p.Asp352fs)
NM_003640.5(ELP1):c.1053G>A (p.Trp351Ter) rs2132016792
NM_003640.5(ELP1):c.1066_1067dup (p.Tyr357fs)
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1213del (p.Arg405fs)
NM_003640.5(ELP1):c.1242C>A (p.Cys414Ter)
NM_003640.5(ELP1):c.1247dup (p.Tyr416Ter)
NM_003640.5(ELP1):c.1249C>T (p.Gln417Ter)
NM_003640.5(ELP1):c.1269dup (p.Val424fs) rs2132013817
NM_003640.5(ELP1):c.1289T>A (p.Leu430Ter) rs2132013740
NM_003640.5(ELP1):c.1333del (p.Ser445fs) rs2132013543
NM_003640.5(ELP1):c.1339C>T (p.Gln447Ter) rs1271784136
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.1406del (p.Gly469fs)
NM_003640.5(ELP1):c.1433del (p.Arg478fs) rs2132007757
NM_003640.5(ELP1):c.1465C>T (p.Gln489Ter)
NM_003640.5(ELP1):c.1483_1505del (p.Asp495fs)
NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter) rs749704610
NM_003640.5(ELP1):c.1499del (p.Pro500fs)
NM_003640.5(ELP1):c.1524G>A (p.Trp508Ter)
NM_003640.5(ELP1):c.1615_1618del (p.Asp539fs) rs2132003172
NM_003640.5(ELP1):c.1696_1697del (p.Thr566fs) rs2131996846
NM_003640.5(ELP1):c.1731_1735del (p.Gln577fs)
NM_003640.5(ELP1):c.1754C>A (p.Ser585Ter) rs1828866977
NM_003640.5(ELP1):c.1884T>A (p.Cys628Ter) rs2131992501
NM_003640.5(ELP1):c.1886del (p.Arg629fs)
NM_003640.5(ELP1):c.1961del (p.Thr654fs)
NM_003640.5(ELP1):c.1990del (p.Cys664fs)
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter) rs1587896788
NM_003640.5(ELP1):c.2020C>T (p.Gln674Ter) rs2131988821
NM_003640.5(ELP1):c.202del (p.Ser68fs)
NM_003640.5(ELP1):c.2035del (p.Ser679fs) rs1587895234
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2088del (p.Ile697fs) rs2131988498
NM_003640.5(ELP1):c.2126T>G (p.Leu709Ter)
NM_003640.5(ELP1):c.2164C>T (p.Arg722Ter)
NM_003640.5(ELP1):c.2268T>A (p.Tyr756Ter) rs1828651198
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) rs1341613149
NM_003640.5(ELP1):c.2450del (p.Asp817fs)
NM_003640.5(ELP1):c.2468_2469del (p.Met823fs)
NM_003640.5(ELP1):c.249del (p.Cys84fs)
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) rs1564084140
NM_003640.5(ELP1):c.2521dup (p.Thr841fs)
NM_003640.5(ELP1):c.252_255del (p.Cys84fs)
NM_003640.5(ELP1):c.254_255dup (p.Ala86fs) rs1306800890
NM_003640.5(ELP1):c.254del (p.Val85fs)
NM_003640.5(ELP1):c.2576del (p.His859fs)
NM_003640.5(ELP1):c.2624_2625del (p.Glu875fs)
NM_003640.5(ELP1):c.2642T>A (p.Leu881Ter) rs2131980225
NM_003640.5(ELP1):c.2657dup (p.Asp886fs)
NM_003640.5(ELP1):c.2729C>A (p.Ser910Ter)
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.2759_2772del (p.Pro919_Phe920insTer)
NM_003640.5(ELP1):c.2859T>A (p.Cys953Ter) rs762459906
NM_003640.5(ELP1):c.2891del (p.Asn963_Leu964insTer)
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
NM_003640.5(ELP1):c.2950C>T (p.Gln984Ter)
NM_003640.5(ELP1):c.3059C>A (p.Ser1020Ter)
NM_003640.5(ELP1):c.3060dup (p.Ala1021fs) rs151101843
NM_003640.5(ELP1):c.307G>T (p.Glu103Ter) rs2132045613
NM_003640.5(ELP1):c.312T>C (p.Cys104=) rs1291760879
NM_003640.5(ELP1):c.3130C>T (p.Gln1044Ter)
NM_003640.5(ELP1):c.3175C>T (p.Gln1059Ter) rs1828239449
NM_003640.5(ELP1):c.31G>T (p.Glu11Ter)
NM_003640.5(ELP1):c.3200dup (p.Met1067fs)
NM_003640.5(ELP1):c.3216_3217del (p.Ala1073fs)
NM_003640.5(ELP1):c.3252del (p.Glu1085fs)
NM_003640.5(ELP1):c.3291C>G (p.Tyr1097Ter) rs924743948
NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter) rs906880093
NM_003640.5(ELP1):c.3378dup (p.Gln1127fs) rs1302114356
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3408del (p.Lys1136fs) rs1564072540
NM_003640.5(ELP1):c.3475dup (p.His1159fs) rs2118938912
NM_003640.5(ELP1):c.348_351dup (p.Ser118fs) rs1587924452
NM_003640.5(ELP1):c.349del (p.Trp117fs) rs1587924458
NM_003640.5(ELP1):c.3578del (p.Ser1193fs)
NM_003640.5(ELP1):c.3608del (p.Lys1203fs)
NM_003640.5(ELP1):c.361C>T (p.Gln121Ter)
NM_003640.5(ELP1):c.3622A>T (p.Lys1208Ter)
NM_003640.5(ELP1):c.3631_3634dup (p.Pro1212fs)
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3688G>T (p.Glu1230Ter) rs764936574
NM_003640.5(ELP1):c.3714dup (p.Ile1239fs) rs1827772289
NM_003640.5(ELP1):c.3765dup (p.Gln1256fs) rs2118934288
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter) rs1827767235
NM_003640.5(ELP1):c.3822G>A (p.Trp1274Ter) rs543759021
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) rs1446325480
NM_003640.5(ELP1):c.3834C>G (p.Tyr1278Ter)
NM_003640.5(ELP1):c.3866_3870del (p.Pro1289fs) rs2118925108
NM_003640.5(ELP1):c.474dup (p.Ile159fs) rs1829700782
NM_003640.5(ELP1):c.505C>T (p.Gln169Ter)
NM_003640.5(ELP1):c.505_506del (p.Gln169fs) rs1829698275
NM_003640.5(ELP1):c.505_506dup (p.Gln169fs)
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) rs1829561209
NM_003640.5(ELP1):c.597del (p.Trp200fs)
NM_003640.5(ELP1):c.599G>A (p.Trp200Ter)
NM_003640.5(ELP1):c.609_610dup (p.Gly204fs)
NM_003640.5(ELP1):c.626_627del (p.Val209fs)
NM_003640.5(ELP1):c.628_631dup (p.Val211fs)
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.64C>T (p.Gln22Ter) rs2132052954
NM_003640.5(ELP1):c.666_667del (p.Arg222fs)
NM_003640.5(ELP1):c.671G>A (p.Trp224Ter) rs1829544561
NM_003640.5(ELP1):c.674_678del (p.Asn225fs) rs1449016398
NM_003640.5(ELP1):c.676C>T (p.Arg226Ter)
NM_003640.5(ELP1):c.697dup (p.Thr233fs)
NM_003640.5(ELP1):c.738G>A (p.Trp246Ter)
NM_003640.5(ELP1):c.746C>G (p.Ser249Ter)
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) rs868073099
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter)
NM_003640.5(ELP1):c.836del (p.Thr279fs)
NM_003640.5(ELP1):c.881G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
NM_003640.5(ELP1):c.88C>T (p.Gln30Ter)
NM_003640.5(ELP1):c.909_919del (p.Trp304fs) rs2132025166
NM_003640.5(ELP1):c.94del (p.Thr32fs)
NM_003640.5(ELP1):c.955del (p.Cys319fs)
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851
NM_003640.5(ELP1):c.982dup (p.Tyr328fs) rs2132017050
NM_003640.5(ELP1):c.990G>A (p.Trp330Ter) rs1829265811

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