ClinVar Miner

List of variants in gene PEPD reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000285.4(PEPD):c.1256A>G (p.Asp419Gly) rs142070498 0.00426
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00332
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451 0.00228
NM_000285.4(PEPD):c.456G>A (p.Thr152=) rs200011486 0.00124
NM_000285.4(PEPD):c.1329T>C (p.Phe443=) rs2230063 0.00081
NM_000285.4(PEPD):c.504-9G>A rs75766592 0.00012
NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln) rs561611888 0.00009
NM_000285.4(PEPD):c.1385T>C (p.Ile462Thr) rs201222933 0.00008
NM_000285.4(PEPD):c.1470T>C (p.Ser490=) rs529823817

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