ClinVar Miner

List of variants in gene ELP1 reported as likely pathogenic for Familial dysautonomia

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Gene type:
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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.3931+1G>T rs143674809 0.00010
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.1461-1G>A rs539544212 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.1854+1G>A rs1554696934 0.00001
NM_003640.5(ELP1):c.2860+2T>C rs754348901 0.00001
NM_003640.5(ELP1):c.304-2A>G rs757972943 0.00001
NM_003640.5(ELP1):c.3572+1G>A rs571348995 0.00001
NM_003640.5(ELP1):c.552+1G>T rs765572951 0.00001
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter) rs1317221906 0.00001
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) rs868073099 0.00001
NC_000009.12:g.(?_108869105)_(108903679_?)del
NC_000009.12:g.(?_108869115)_(108901681_?)del
NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter) rs2537926622
NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter) rs1274989641
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs) rs2537923248
NM_003640.5(ELP1):c.1202_1203del (p.Val401fs) rs2537923192
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs) rs2537917447
NM_003640.5(ELP1):c.1461-1G>T rs539544212
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.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.1619_1620insT (p.Glu540fs) rs2537912475
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter) rs2537905821
NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter) rs2537905523
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.1909-2A>G
NM_003640.5(ELP1):c.1934del (p.Ala645fs) rs2537902549
NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter) rs2537902464
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2014+1G>A rs1554696574
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.5(ELP1):c.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter) rs1003255472
NM_003640.5(ELP1):c.2474dup (p.Val826fs) rs2537891053
NM_003640.5(ELP1):c.252_255del (p.Cys84fs) rs1306800890
NM_003640.5(ELP1):c.2562del (p.Leu855fs) rs2537890382
NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter) rs2537890305
NM_003640.5(ELP1):c.2587+2T>G rs1554695299
NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs) rs2537889240
NM_003640.5(ELP1):c.2677del (p.His893fs) rs2537889121
NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs) rs2537889057
NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs) rs2537889010
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) rs28939712
NM_003640.5(ELP1):c.2779del (p.Met927fs) rs2537884437
NM_003640.5(ELP1):c.2795del (p.Gln932fs) rs2537884383
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs) rs2537882528
NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs) rs2537882438
NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs) rs2537882376
NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter) rs2537882308
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs) rs2537878571
NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs) rs2537878444
NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs) rs2537875027
NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs) rs2537862322
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs) rs2537859430
NM_003640.5(ELP1):c.343_344del (p.Met115fs) rs2537958746
NM_003640.5(ELP1):c.3460+1G>A rs1478450302
NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter) rs1827833640
NM_003640.5(ELP1):c.3510del (p.Ser1170fs) rs2537857791
NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs) rs2537857777
NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs) rs2537857738
NM_003640.5(ELP1):c.3624del (p.Glu1209fs) rs2537856378
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs) rs2537856143
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter) rs2537855098
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.3855+2T>A rs2118933859
NM_003640.5(ELP1):c.3855+2T>G rs2118933859
NM_003640.5(ELP1):c.386-2A>C rs1554702880
NM_003640.5(ELP1):c.3956del (p.Lys1319fs) rs2118907171
NM_003640.5(ELP1):c.496A>T (p.Lys166Ter) rs2537949878
NM_003640.5(ELP1):c.529C>T (p.Gln177Ter) rs2537949763
NM_003640.5(ELP1):c.54del (p.Asn20fs) rs1554703874
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer) rs2537943735
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) rs1829561209
NM_003640.5(ELP1):c.574del (p.Asp192fs) rs2537943670
NM_003640.5(ELP1):c.639C>A (p.Cys213Ter) rs1829557292
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.740+1G>T rs763719304
NM_003640.5(ELP1):c.812del (p.Asn271fs) rs2537939737
NM_003640.5(ELP1):c.814G>T (p.Gly272Ter) rs1339594475
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter) rs2537936552
NM_003640.5(ELP1):c.954_958+7del rs2132025021
NM_003640.5(ELP1):c.959-1G>A rs2132017099
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851
NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter) rs2537926785

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