ClinVar Miner

List of variants in gene ELAC2 reported as benign by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302

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