ClinVar Miner

List of variants in gene ELP1 reported as benign for not provided

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Total variants: 63
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HGVS dbSNP
GRCh37/hg19 9q31.3(chr9:111654395-111670100)x1
NC_000009.12:g.108879632_108879635del
NM_003640.5(ELP1):c.-126T>G rs2275640
NM_003640.5(ELP1):c.-301C>G rs2275641
NM_003640.5(ELP1):c.-56+101G>C
NM_003640.5(ELP1):c.1190-249C>T
NM_003640.5(ELP1):c.1360+153C>G
NM_003640.5(ELP1):c.1360+293C>T
NM_003640.5(ELP1):c.1361-140A>G
NM_003640.5(ELP1):c.1361-23A>G
NM_003640.5(ELP1):c.1460+72A>G
NM_003640.5(ELP1):c.1461-121T>C
NM_003640.5(ELP1):c.150+145A>G
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790
NM_003640.5(ELP1):c.1750+115C>G
NM_003640.5(ELP1):c.1750+233C>G
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.5(ELP1):c.1854+283G>T
NM_003640.5(ELP1):c.1855-160A>G
NM_003640.5(ELP1):c.1855-217A>G
NM_003640.5(ELP1):c.2015-328G>A
NM_003640.5(ELP1):c.2015-71G>A
NM_003640.5(ELP1):c.2015-72C>T
NM_003640.5(ELP1):c.2131-113T>G
NM_003640.5(ELP1):c.2131-175C>T
NM_003640.5(ELP1):c.2205-121C>T
NM_003640.5(ELP1):c.2205-197C>T
NM_003640.5(ELP1):c.2363+159G>T
NM_003640.5(ELP1):c.2588-39A>C
NM_003640.5(ELP1):c.2588-97A>G
NM_003640.5(ELP1):c.2736+304T>C
NM_003640.5(ELP1):c.2736+308A>G
NM_003640.5(ELP1):c.2737-179C>T
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.2860+291T>A
NM_003640.5(ELP1):c.2958+202T>C
NM_003640.5(ELP1):c.304-220C>T
NM_003640.5(ELP1):c.3160+23T>C
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145
NM_003640.5(ELP1):c.3222+113A>G
NM_003640.5(ELP1):c.3222+115A>G
NM_003640.5(ELP1):c.3222+205T>G
NM_003640.5(ELP1):c.3346+110C>T
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285
NM_003640.5(ELP1):c.3572+199C>T
NM_003640.5(ELP1):c.3572+99G>A
NM_003640.5(ELP1):c.3700+236G>A
NM_003640.5(ELP1):c.3701-124A>C
NM_003640.5(ELP1):c.3701-166T>C
NM_003640.5(ELP1):c.3701-202G>A
NM_003640.5(ELP1):c.3701-95C>G
NM_003640.5(ELP1):c.3856-221C>A
NM_003640.5(ELP1):c.3856-54C>A
NM_003640.5(ELP1):c.3856-81G>T
NM_003640.5(ELP1):c.3856-82G>C
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202
NM_003640.5(ELP1):c.3931+189G>A
NM_003640.5(ELP1):c.3932-185G>A
NM_003640.5(ELP1):c.552+133A>G
NM_003640.5(ELP1):c.740+226A>G
NM_003640.5(ELP1):c.741-104TCAT[5]
NM_003640.5(ELP1):c.958+56A>T
NM_003640.5(ELP1):c.959-118C>T

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