ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00324
NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) rs201865747 0.00049
NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp) rs781570190 0.00027
NM_000285.4(PEPD):c.841T>A (p.Tyr281Asn) rs367902648 0.00011
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) rs529315200 0.00005
NM_000285.4(PEPD):c.1231G>A (p.Val411Met) rs544921062 0.00004
NM_000285.4(PEPD):c.248A>G (p.Tyr83Cys) rs376397947 0.00004
NM_000285.4(PEPD):c.1366G>A (p.Val456Met) rs189549581 0.00002
NM_000285.4(PEPD):c.1435A>G (p.Met479Val) rs774917395 0.00002
NM_000285.4(PEPD):c.1433G>A (p.Cys478Tyr) rs372530277
NM_000285.4(PEPD):c.331A>G (p.Ile111Val) rs755350900

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