ClinVar Miner

List of variants in gene ELP1 reported by Invitae

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Gene type:
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Total variants: 165
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HGVS dbSNP
NC_000009.11:g.(?_111631385)_(111665959_?)del
NC_000009.11:g.(?_111631395)_(111663961_?)del
NC_000009.11:g.(?_111640265)_(111693436_?)del
NC_000009.11:g.(?_111693257)_(111693446_?)dup
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.1169A>G (p.Asn390Ser) rs1273486554
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) rs1554699340
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.1229C>T (p.Pro410Leu)
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.1309A>C (p.Asn437His)
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.1486C>T (p.Gln496Ter)
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) rs779307491
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) rs755282356
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile)
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) rs143494120
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp)
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.1758T>G (p.Pro586=) rs35054425
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val)
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) rs886063347
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.1911T>C (p.Val637=) rs369645371
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) rs377020122
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys)
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) rs372151936
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro)
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter)
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)
NM_003640.5(ELP1):c.2035del (p.Ser679fs)
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.2087G>C (p.Arg696Pro) rs137853022
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.2204+6T>C rs111033171
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.22C>T (p.Arg8Trp) rs150202264
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr)
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039
NM_003640.5(ELP1):c.2336A>G (p.His779Arg)
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.2378C>T (p.Thr793Met)
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.243G>T (p.Glu81Asp)
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) rs1564084140
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.2588-6T>G rs1350078150
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.274G>A (p.Val92Ile)
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) rs751179612
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser)
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
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.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798
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+1G>A
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) rs147870527
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.304-5C>T rs370384351
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) rs1554694121
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.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.3325G>A (p.Val1109Ile)
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)
NM_003640.5(ELP1):c.348_351dup (p.Ser118fs)
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285
NM_003640.5(ELP1):c.349del (p.Trp117fs)
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.360C>G (p.Asp120Glu) rs775972369
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) rs764936574
NM_003640.5(ELP1):c.3700+6T>G
NM_003640.5(ELP1):c.3701-6C>G rs148535504
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) rs766517046
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu)
NM_003640.5(ELP1):c.3855+9T>G rs533673443
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>T (p.Ser1306Leu)
NM_003640.5(ELP1):c.3931+1G>A rs143674809
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) rs1554735745
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser)
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.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.628A>G (p.Ser210Gly)
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.674_678del (p.Asn225fs)
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) rs1356812138
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys)
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>A (p.Arg27=)
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
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

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