ClinVar Miner

List of variants in gene ELP1 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 90
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HGVS dbSNP
NM_003640.4(ELP1):c.-353C>A rs886063351
NM_003640.4(ELP1):c.-403C>T rs886063352
NM_003640.4(ELP1):c.-534delC rs544672591
NM_003640.5(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.-71G>C rs2275639
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359
NM_003640.5(ELP1):c.1436_1438CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) rs749608070
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) rs886063348
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425
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.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.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) rs376699949
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093
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.2204+6T>C rs111033171
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092
NM_003640.5(ELP1):c.2958+10A>T rs768709875
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.304-5C>T rs370384351
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.5(ELP1):c.3222+14C>T rs374787755
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.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3346+6G>C rs774179813
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.3492C>T (p.Asp1164=) rs79596285
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) rs199617076
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) rs886063345
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.3869A>G (p.Asn1290Ser) rs145319352
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.5(ELP1):c.3931+14C>G rs555520875
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092
NM_003640.5(ELP1):c.741-15dup rs398102543
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246
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.959-15C>T rs112114410

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