ClinVar Miner

List of variants in gene LIPA reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) rs147426329 0.00061
NM_000235.4(LIPA):c.112-9T>C rs200186130 0.00046
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr) rs367664486 0.00001
NM_000235.4(LIPA):c.539-5C>T rs2297472
NM_000235.4(LIPA):c.955C>T (p.His319Tyr)

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