ClinVar Miner

List of variants in gene ELP1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.1361-140A>G rs838823 0.92790
NM_003640.5(ELP1):c.2860+291T>A rs947196 0.90227
NM_003640.5(ELP1):c.3572+199C>T rs1416899 0.90058
NM_003640.5(ELP1):c.3856-82G>C rs1981267 0.89958
NM_003640.5(ELP1):c.3856-81G>T rs1981268 0.89954
NM_003640.5(ELP1):c.3700+236G>A rs10435835 0.79781
NM_003640.5(ELP1):c.1361-23A>G rs838824 0.70718
NM_003640.5(ELP1):c.2205-121C>T rs4978760 0.64996
NM_003640.5(ELP1):c.3932-185G>A rs3763644 0.62610
NM_003640.5(ELP1):c.1360+153C>G rs838820 0.62240
NM_003640.5(ELP1):c.740+226A>G rs1417713 0.57004
NM_003640.5(ELP1):c.958+56A>T rs1772046 0.56907
NM_003640.5(ELP1):c.1855-160A>G rs2275633 0.50329
NM_003640.5(ELP1):c.1854+283G>T rs10759327 0.48270
NM_003640.5(ELP1):c.3931+189G>A rs2027434 0.41741
NM_003640.5(ELP1):c.3856-54C>A rs2027433 0.41736
NM_003640.5(ELP1):c.2958+202T>C rs10816762 0.41008
NM_003640.5(ELP1):c.3701-202G>A rs10435834 0.40661
NM_003640.5(ELP1):c.3160+23T>C rs3737309 0.40638
NM_003640.5(ELP1):c.-301C>G rs2275641 0.35638
NM_003640.5(ELP1):c.3572+99G>A rs2275496 0.34623
NM_003640.5(ELP1):c.2737-179C>T rs11793522 0.34372
NM_003640.5(ELP1):c.2015-72C>T rs1341217 0.27211
NM_003640.5(ELP1):c.2736+308A>G rs4978758 0.27151
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_003640.5(ELP1):c.2736+304T>C rs4978759 0.27049
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_003640.5(ELP1):c.3701-166T>C rs10435833 0.22096
NM_003640.5(ELP1):c.3701-124A>C rs10435855 0.21962
NM_003640.5(ELP1):c.3346+110C>T rs7873793 0.21922
NM_003640.5(ELP1):c.3856-221C>A rs4978753 0.21898
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_003640.5(ELP1):c.3701-95C>G rs3818875 0.21860
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_003640.5(ELP1):c.1855-217A>G rs3818932 0.21752
NM_003640.5(ELP1):c.1460+72A>G rs2304779 0.21723
NM_003640.5(ELP1):c.304-220C>T rs113624314 0.21615
NM_003640.5(ELP1):c.-56+101G>C rs2275637 0.21571
NM_003640.5(ELP1):c.2131-175C>T rs1341215 0.20229
NM_003640.5(ELP1):c.1643+145G>A rs4369056 0.19539
NM_003640.5(ELP1):c.3285+9C>T rs2275495 0.18606
NM_003640.5(ELP1):c.3222+113A>G rs3780509 0.18545
NM_003640.5(ELP1):c.3222+115A>G rs3780508 0.18538
NM_003640.5(ELP1):c.2015-71G>A rs1341216 0.17210
NM_003640.5(ELP1):c.553-235A>G rs55905125 0.14860
NM_003640.5(ELP1):c.3347-90A>G rs7874280 0.14534
NM_003640.5(ELP1):c.3285+162T>C rs7046977 0.14522
NM_003640.5(ELP1):c.552+133A>G rs3750457 0.13766
NM_003640.5(ELP1):c.552+42_552+43dup rs3833703 0.13456
NM_003640.5(ELP1):c.1460+162T>G rs838825 0.13426
NM_003640.5(ELP1):c.1750+124C>T rs17792422 0.12773
NM_003640.5(ELP1):c.466+36G>A rs2275635 0.12702
NM_003640.5(ELP1):c.741-15dup rs398102543 0.11790
NM_003640.5(ELP1):c.1461-121T>C rs3750461 0.11772
NM_003640.5(ELP1):c.1190-249C>T rs2297580 0.11601
NM_003640.5(ELP1):c.959-118C>T rs10979608 0.11499
NM_003640.5(ELP1):c.1855-139G>A rs2275632 0.11396
NM_003640.5(ELP1):c.2131-113T>G rs55969525 0.10200
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605 0.09707
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791 0.09637
NM_003640.5(ELP1):c.2205-197C>T rs76493188 0.08631
NM_003640.5(ELP1):c.2205-98C>G rs12237534 0.08436
NM_003640.5(ELP1):c.2204+74A>G rs56170160 0.08419
NM_003640.5(ELP1):c.1461-213T>C rs3750460 0.08356
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788 0.07986
NM_003640.5(ELP1):c.1190-120A>G rs11791215 0.07878
NM_003640.5(ELP1):c.-126T>G rs2275640 0.07797
NM_003640.5(ELP1):c.2205-155A>G rs12238625 0.07656
NM_003640.5(ELP1):c.1854+309G>A rs55912317 0.07560
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003640.5(ELP1):c.1750+115C>G rs16913675 0.07241
NM_003640.5(ELP1):c.2588-39A>C rs10816764 0.07166
NM_003640.5(ELP1):c.1750+233C>G rs147854908 0.06915
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.1360+130A>G rs62575182 0.05237
NM_003640.5(ELP1):c.-71G>C rs2275639 0.05104
NM_003640.5(ELP1):c.1360+293C>T rs4978761 0.05103
NM_003640.5(ELP1):c.865-72A>G rs3750458 0.05075
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_003640.5(ELP1):c.2588-120A>G rs2275627 0.05068
NM_003640.5(ELP1):c.3347-181A>G rs56255674 0.05022
NM_003640.5(ELP1):c.2015-231G>C rs59112775 0.04991
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_003640.5(ELP1):c.3347-257A>G rs12342757 0.04703
NM_003640.5(ELP1):c.2015-328G>A rs117660102 0.04270
NM_003640.5(ELP1):c.2283+26C>G rs16913665 0.03332
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_003640.5(ELP1):c.3573-51G>A rs115472775 0.03298
NM_003640.5(ELP1):c.385+170A>G rs76264949 0.02963
NM_003640.5(ELP1):c.3223-72G>A rs16913636 0.02772
NM_003640.5(ELP1):c.2130+133T>C rs2275630 0.02307
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_003640.5(ELP1):c.2130+141G>A rs55780406 0.02141
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_003640.5(ELP1):c.304-301C>T rs151102621 0.01849
NM_003640.5(ELP1):c.2364-33G>A rs77747745 0.01764
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_003640.5(ELP1):c.1854+297A>G rs117286243 0.01625
NM_003640.5(ELP1):c.3932-281C>G rs118146489 0.01615
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285 0.01448
NM_003640.5(ELP1):c.2861-295A>G rs56143112 0.01318
NM_003640.5(ELP1):c.1644-203G>A rs74699859 0.01037
NM_003640.5(ELP1):c.150+287T>G rs1001374513 0.00950
NM_003640.5(ELP1):c.2363+70A>G rs41313339 0.00891
NM_003640.5(ELP1):c.740+189A>T rs73526118 0.00857
NM_003640.5(ELP1):c.864+251G>A rs113508452 0.00851
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
NM_003640.5(ELP1):c.959-44T>G rs74919405 0.00789
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_003640.5(ELP1):c.1854+41C>T rs116141575 0.00603
NM_003640.5(ELP1):c.1644-155A>G rs565146732 0.00530
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
NM_003640.5(ELP1):c.3931+151A>T rs143673059 0.00519
NM_003640.5(ELP1):c.3461-163G>A rs142241038 0.00515
NM_003640.5(ELP1):c.1855-38A>G rs114088295 0.00508
NM_003640.5(ELP1):c.552+215G>A rs142701683 0.00477
NM_003640.5(ELP1):c.3160+47A>T rs143250122 0.00457
NM_003640.5(ELP1):c.3931+39A>G rs149721955 0.00408
NM_003640.5(ELP1):c.2588-143A>T rs73512446 0.00374
NM_003640.5(ELP1):c.1189+211A>G rs530222422 0.00337
NM_003640.5(ELP1):c.1750+154A>G rs55778443 0.00323
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
NM_003640.5(ELP1):c.467-38C>A rs147310486 0.00239
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 0.00236
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_003640.5(ELP1):c.1143G>A (p.Val381=) rs35936107 0.00210
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352 0.00058
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_003640.5(ELP1):c.650-7C>T rs368410371 0.00022
NM_003640.5(ELP1):c.2958+29C>T rs141550637 0.00021
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) rs146956297 0.00021
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) rs200532312 0.00020
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) rs2230789 0.00018
NM_003640.5(ELP1):c.348T>C (p.Ser116=) rs2230787 0.00014
NM_003640.5(ELP1):c.-64G>A rs575166769 0.00013
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003640.5(ELP1):c.3460+13G>A rs149897637 0.00010
NM_003640.5(ELP1):c.1644-13T>C rs557540663 0.00009
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr) rs199595486 0.00009
NM_003640.5(ELP1):c.3346+7G>T rs144631706 0.00008
NM_003640.5(ELP1):c.150+16A>G rs148164198 0.00007
NM_003640.5(ELP1):c.-31G>C rs375962780 0.00006
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) rs776167946 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919 0.00006
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) rs201460139 0.00004
NM_003640.5(ELP1):c.606G>T (p.Gly202=) rs768309637 0.00004
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149 0.00003
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) rs757701039 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) rs55658431 0.00003
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) rs775972369 0.00003
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg) rs557686367 0.00003
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) rs375666523 0.00003
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) rs749200669 0.00002
NM_003640.5(ELP1):c.3160+27A>G rs1341213 0.00002
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) rs763812233 0.00001
NM_003640.5(ELP1):c.2015-20T>C rs760415006 0.00001
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) rs201390288 0.00001
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) rs138819925 0.00001
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952 0.00001
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His) rs143580972 0.00001
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998 0.00001
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val) rs756928248 0.00001
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) rs777790000 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NC_000009.12:g.108934341C>G rs200182947
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.-59_-56+15del rs993537831
NM_003640.5(ELP1):c.1360+166dup rs11431875
NM_003640.5(ELP1):c.150+145A>G rs838818
NM_003640.5(ELP1):c.1643+233T>A rs73654150
NM_003640.5(ELP1):c.1644-15_1644-13del rs753571092
NM_003640.5(ELP1):c.1644-183GT[10] rs3835305
NM_003640.5(ELP1):c.1644-183GT[11] rs3835305
NM_003640.5(ELP1):c.1644-183GT[12] rs3835305
NM_003640.5(ELP1):c.1644-183GT[13] rs3835305
NM_003640.5(ELP1):c.1644-183GT[15] rs3835305
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) rs879254309
NM_003640.5(ELP1):c.2014+75C>A rs2275631
NM_003640.5(ELP1):c.2054G>A (p.Gly685Glu) rs2131988688
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.2170C>G (p.Leu724Val)
NM_003640.5(ELP1):c.2204+141dup rs369301164
NM_003640.5(ELP1):c.2363+159G>T rs2275628
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) rs879253977
NM_003640.5(ELP1):c.2588-11_2588-10insAC rs1587890642
NM_003640.5(ELP1):c.2588-97A>G rs2275626
NM_003640.5(ELP1):c.2736+213A>G rs10979598
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2860+242A>G rs141502202
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3209A>G (p.Glu1070Gly) rs376878918
NM_003640.5(ELP1):c.3222+205T>G rs3780507
NM_003640.5(ELP1):c.3460+13G>T rs149897637
NM_003640.5(ELP1):c.3461-78_3461-75del rs10550153
NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro) rs200322331
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) rs879254229
NM_003640.5(ELP1):c.3856-14dup rs1554737879
NM_003640.5(ELP1):c.467-10del rs750475941
NM_003640.5(ELP1):c.553-214G>C rs7029072
NM_003640.5(ELP1):c.553-221del rs879836091
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu) rs771715592
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) rs367552387
NM_003640.5(ELP1):c.740+153dup rs35212638
NM_003640.5(ELP1):c.741-104TCAT[5] rs57787716
NM_003640.5(ELP1):c.864+62dup rs34189987
NM_003640.5(ELP1):c.864+78_864+79del rs34189987
NM_003640.5(ELP1):c.864+79del rs34189987
NM_003640.5(ELP1):c.959-225dup rs199537662
NM_003640.5(ELP1):c.959-259C>A rs12340653
NM_003640.5(ELP1):c.959-260del rs554750757
NM_003640.5(ELP1):c.959-275dup rs554750757

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