ClinVar Miner

List of variants in gene ELAC2 reported as likely benign for not specified

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_018127.7(ELAC2):c.1575C>T (p.Cys525=) rs140487151 0.00028
NM_018127.7(ELAC2):c.2409G>A (p.Leu803=) rs201700166 0.00022
NM_018127.7(ELAC2):c.-19T>C rs757625951 0.00013
NM_018127.7(ELAC2):c.2151G>A (p.Ala717=) rs747104908 0.00006
NM_018127.7(ELAC2):c.738+17G>A rs761089421 0.00005
NM_018127.7(ELAC2):c.369A>G (p.Gly123=) rs143942145 0.00004
NM_018127.7(ELAC2):c.1521C>T (p.Ser507=) rs772549996 0.00003
NM_018127.7(ELAC2):c.2108+13G>A rs190562664 0.00003
NM_018127.7(ELAC2):c.2109-17C>G rs1053943347 0.00002
NM_018127.7(ELAC2):c.1161C>T (p.Thr387=) rs1057521455 0.00001
NM_018127.7(ELAC2):c.2109-6C>T rs1372118798 0.00001
NM_018127.7(ELAC2):c.680-11T>G rs1367528939 0.00001
NM_018127.7(ELAC2):c.983+15C>G rs200937200 0.00001
NM_018127.7(ELAC2):c.-30G>A rs549348414
NM_018127.7(ELAC2):c.-69_-46dup rs1064795330
NM_018127.7(ELAC2):c.1479G>A (p.Pro493=) rs140335642
NM_018127.7(ELAC2):c.1731G>C (p.Leu577=) rs772768599
NM_018127.7(ELAC2):c.1908+16G>A rs773964699
NM_018127.7(ELAC2):c.225C>T (p.Tyr75=) rs766731755
NM_018127.7(ELAC2):c.797+14del rs748817791

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