ClinVar Miner

List of variants in gene ELAC2 reported by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter) rs766731755

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