ClinVar Miner

List of variants in gene ELP1 reported as benign for Familial dysautonomia

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Total variants: 49
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HGVS dbSNP gnomAD frequency
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.958+56A>T rs1772046 0.56907
NM_003640.5(ELP1):c.*1351C>A rs4978371 0.41826
NM_003640.5(ELP1):c.3856-54C>A rs2027433 0.41736
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.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_003640.5(ELP1):c.1460+72A>G rs2304779 0.21723
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.1750+124C>T rs17792422 0.12773
NM_003640.5(ELP1):c.*1071G>A rs41305457 0.11134
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.441G>A (p.Gln147=) rs2230788 0.07986
NM_003640.5(ELP1):c.-126T>G rs2275640 0.07797
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003640.5(ELP1):c.*1260C>T rs13299651 0.07241
NM_003640.5(ELP1):c.1750+115C>G rs16913675 0.07241
NM_003640.5(ELP1):c.*1259C>G rs13299652 0.07240
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.-71G>C rs2275639 0.05104
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_003640.5(ELP1):c.*861T>G rs74671462 0.03303
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
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.*392A>G rs10979577 0.01747
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
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.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
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.2026G>A (p.Gly676Ser) rs537930129 0.00004
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110

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