ClinVar Miner

List of variants in gene ELP1 reported as likely benign for not specified

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
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.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_003640.5(ELP1):c.650-7C>T rs368410371 0.00022
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.3346+7G>T rs144631706 0.00008
NM_003640.5(ELP1):c.150+16A>G rs148164198 0.00007
NM_003640.5(ELP1):c.2748A>G (p.Glu916=) rs200551647 0.00003
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) rs1057521262 0.00003
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.3460+13G>T rs149897637
NM_003640.5(ELP1):c.3856-14dup rs1554737879

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