ClinVar Miner

List of variants in gene ELP1 reported as benign by GeneDx

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Gene type:
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Total variants: 75
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HGVS dbSNP
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.-71G>C rs2275639
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) rs56053149
NM_003640.5(ELP1):c.1190-249C>T
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359
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.1574G>A (p.Arg525Gln) rs838827
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.1854+283G>T
NM_003640.5(ELP1):c.1855-160A>G
NM_003640.5(ELP1):c.1855-217A>G
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791
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.2294G>A (p.Gly765Glu) rs2230792
NM_003640.5(ELP1):c.2363+159G>T
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794
NM_003640.5(ELP1):c.2587+14C>T rs141670242
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.2860+291T>A
NM_003640.5(ELP1):c.2958+202T>C
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795
NM_003640.5(ELP1):c.304-220C>T
NM_003640.5(ELP1):c.3160+23T>C
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.3285+9C>T rs2275495
NM_003640.5(ELP1):c.3346+110C>T
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.3931+189G>A
NM_003640.5(ELP1):c.3932-185G>A
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788
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.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.958+56A>T
NM_003640.5(ELP1):c.959-118C>T
NM_003640.5(ELP1):c.959-15C>T rs112114410

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