ClinVar Miner

List of variants in gene ELP1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.2130+141G>A rs55780406 0.02141
NM_003640.5(ELP1):c.304-301C>T rs151102621 0.01849
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.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.959-44T>G rs74919405 0.00789
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.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.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
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.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.606G>T (p.Gly202=) rs768309637 0.00004
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
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.2394T>C (p.Pro798=) rs138819925 0.00001
NM_003640.5(ELP1):c.2529T>C (p.His843=) rs757233952 0.00001
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) rs780520998 0.00001
NM_003640.5(ELP1):c.888A>G (p.Ala296=) rs371923882 0.00001
NM_003640.5(ELP1):c.-17G>A rs199738099
NM_003640.5(ELP1):c.1644-15_1644-13del rs753571092
NM_003640.5(ELP1):c.2014+75C>A rs2275631
NM_003640.5(ELP1):c.209G>A (p.Arg70His) rs111936933
NM_003640.5(ELP1):c.2588-11_2588-10insAC rs1587890642
NM_003640.5(ELP1):c.2860+242A>G rs141502202
NM_003640.5(ELP1):c.3460+13G>T rs149897637
NM_003640.5(ELP1):c.3856-14dup rs1554737879
NM_003640.5(ELP1):c.553-221del rs879836091
NM_003640.5(ELP1):c.959-225dup rs199537662
NM_003640.5(ELP1):c.959-260del rs554750757

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