ClinVar Miner

List of variants studied for Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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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.1186A>G (p.Ile396Val) rs149544601 0.00024
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser) rs1217149676 0.00006
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly) rs119484087

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