ClinVar Miner

List of variants in gene ELAC2 reported by Baylor Genetics

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_018127.7(ELAC2):c.1908+1G>A rs1014558424
NM_018127.7(ELAC2):c.457del (p.Ile153fs) rs1567773277
NM_018127.7(ELAC2):c.595A>G (p.Ser199Gly) rs1693923229
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)

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