ClinVar Miner

List of variants in gene ELP1 studied for Familial dysautonomia

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Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP
NC_000009.11:g.(?_111631385)_(111665959_?)del
NC_000009.11:g.(?_111631395)_(111663961_?)del
NC_000009.11:g.(?_111693257)_(111693446_?)dup
NM_003640.4(ELP1):c.-353C>A rs886063351
NM_003640.4(ELP1):c.-403C>T rs886063352
NM_003640.4(ELP1):c.-534delC rs544672591
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) rs750344128
NM_003640.5(ELP1):c.*1062G>T rs559551917
NM_003640.5(ELP1):c.*1071G>A rs41305457
NM_003640.5(ELP1):c.*1124C>T rs746907451
NM_003640.5(ELP1):c.*1191T>G rs539404183
NM_003640.5(ELP1):c.*1214C>T rs143906434
NM_003640.5(ELP1):c.*1247T>C rs76994656
NM_003640.5(ELP1):c.*1254C>A rs879924643
NM_003640.5(ELP1):c.*1259C>G rs13299652
NM_003640.5(ELP1):c.*1260C>T rs13299651
NM_003640.5(ELP1):c.*1277T>G rs537888003
NM_003640.5(ELP1):c.*1351C>A rs4978371
NM_003640.5(ELP1):c.*1352A>G rs886063344
NM_003640.5(ELP1):c.*1494A>G rs543323193
NM_003640.5(ELP1):c.*392A>G rs10979577
NM_003640.5(ELP1):c.*502C>T rs56305287
NM_003640.5(ELP1):c.*861T>G rs74671462
NM_003640.5(ELP1):c.-126T>G rs2275640
NM_003640.5(ELP1):c.-155A>G rs117100816
NM_003640.5(ELP1):c.-155A>T rs117100816
NM_003640.5(ELP1):c.-156G>A rs886063350
NM_003640.5(ELP1):c.-158C>G rs530824179
NM_003640.5(ELP1):c.-177C>T rs138630440
NM_003640.5(ELP1):c.-242T>G rs765585828
NM_003640.5(ELP1):c.-301C>G rs2275641
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.-71G>C rs2275639
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) rs748458910
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe)
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) rs918763626
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu)
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe)
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) rs1564096412
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly)
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser) rs1273486554
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln) rs369242781
NM_003640.5(ELP1):c.1224G>A (p.Val408=) rs151157900
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) rs764155403
NM_003640.5(ELP1):c.1460+3A>G rs1564093432
NM_003640.5(ELP1):c.1461-1G>A rs539544212
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1461-2A>G rs866046915
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) rs1554698037
NM_003640.5(ELP1):c.147_150+1dup rs1319053366
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491
NM_003640.5(ELP1):c.150+1G>A rs1554703831
NM_003640.5(ELP1):c.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-1G>T rs1554703613
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) rs267602078
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) rs143494120
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.1656G>A (p.Ala552=) rs200535861
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1705_1707GTA[1] (p.Val570del) rs1554697136
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) rs749959888
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) rs755988042
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1854+3A>G
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) rs1554696650
NM_003640.5(ELP1):c.1908+2T>A rs1554696648
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1941_1943TGA[1] (p.Asp648del) rs1554696595
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) rs1554696580
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949
NM_003640.5(ELP1):c.2014+1G>A rs1554696574
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) rs1321906641
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu) rs761858315
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) rs111936933
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
NM_003640.5(ELP1):c.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) rs1564085701
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) rs182287137
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) rs150202264
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) rs1554695751
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) rs931451775
NM_003640.5(ELP1):c.235G>C (p.Asp79His) rs1554703582
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met)
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) rs1358881100
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu)
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) rs1564084140
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2587+2T>G rs1554695299
NM_003640.5(ELP1):c.2588-6T>G rs1350078150
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr)
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874
NM_003640.5(ELP1):c.270A>T (p.Gly90=) rs200640674
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) rs1239561807
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798
NM_003640.5(ELP1):c.2860+2T>C rs754348901
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669
NM_003640.5(ELP1):c.2958+10A>T rs768709875
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) rs1376166738
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=) rs781623768
NM_003640.5(ELP1):c.303+3A>G rs766433871
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) rs368999377
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.304-5C>T rs370384351
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val)
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.5(ELP1):c.3222+14C>T rs374787755
NM_003640.5(ELP1):c.3223-16C>G rs372907186
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) rs192047457
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.3285+2T>C rs1554692181
NM_003640.5(ELP1):c.3285+6A>T rs1465325866
NM_003640.5(ELP1):c.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3346+6G>C rs774179813
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) rs1554691848
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) rs372499865
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) rs886063346
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285
NM_003640.5(ELP1):c.349del (p.Trp117fs)
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
NM_003640.5(ELP1):c.3572+1G>A
NM_003640.5(ELP1):c.3572+5G>C
NM_003640.5(ELP1):c.3572+5G>T
NM_003640.5(ELP1):c.3573-7C>G rs370571926
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) rs1453695293
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) rs1554691544
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg) rs201888676
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
NM_003640.5(ELP1):c.3855+9T>G rs533673443
NM_003640.5(ELP1):c.386-2A>C rs1554702880
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg) rs1554737851
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) rs780649768
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
NM_003640.5(ELP1):c.3931+14C>G rs555520875
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3931+1G>T rs143674809
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter) rs1554735745
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) rs1554735724
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) rs758442235
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.5(ELP1):c.54del (p.Asn20fs) rs1554703874
NM_003640.5(ELP1):c.552+1G>T rs765572951
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.552+2dup rs1554702145
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro) rs367552387
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.649+3A>G rs1554701323
NM_003640.5(ELP1):c.650-6G>A rs571466270
NM_003640.5(ELP1):c.650-7C>T rs368410371
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
NM_003640.5(ELP1):c.741-15dup rs398102543
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser)
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) rs868073099
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) rs1554700891
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) rs770755917
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
NM_003640.5(ELP1):c.865-9C>T rs748084965
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889
NM_003640.5(ELP1):c.959-15C>T rs112114410
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851

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