ClinVar Miner

List of variants in gene PEPD reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000285.4(PEPD):c.793C>T (p.Arg265Ter) rs121917725 0.00003
NM_000285.4(PEPD):c.551G>A (p.Arg184Gln) rs121917722 0.00002
NM_000285.4(PEPD):c.826G>A (p.Asp276Asn) rs121917721 0.00002
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp) rs121917723 0.00002
NM_000285.3(PEPD):c.1153_1344del (p.Gly385_Gly448del)
NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys) rs267606944
NM_000285.4(PEPD):c.1356GGA[1] (p.Glu453del) rs757386104
NM_000285.4(PEPD):c.605C>T (p.Ser202Phe) rs267606943
NM_000285.4(PEPD):c.611_623dup (p.Glu208_Val209insGlyProProTer) rs794728008
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191

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