ClinVar Miner

List of variants studied for Familial dysautonomia by Genome-Nilou Lab

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Total variants: 37
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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.3856-54C>A rs2027433 0.41736
NM_003640.5(ELP1):c.3160+23T>C rs3737309 0.40638
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.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.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.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_003640.5(ELP1):c.1750+115C>G rs16913675 0.07241
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) rs148609833 0.00041
NM_003640.5(ELP1):c.3708A>G (p.Val1236=) rs368761085 0.00010
NM_003640.5(ELP1):c.1914G>A (p.Ala638=) rs142096497 0.00006
NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys) rs1198964450 0.00001
NM_003640.5(ELP1):c.2675A>G (p.Asp892Gly) rs1423041055 0.00001
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys) rs763981711 0.00001
NM_003640.5(ELP1):c.656G>A (p.Arg219Gln) rs749382362 0.00001
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003640.5(ELP1):c.3956del (p.Lys1319fs) rs2118907171
NM_003640.5(ELP1):c.755T>G (p.Leu252Trp) rs1829498017

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