ClinVar Miner

List of variants in gene XPNPEP3 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_022098.4(XPNPEP3):c.*1607del rs144878138 0.02320
NM_022098.4(XPNPEP3):c.*2762T>C rs181614337 0.01298
NM_022098.4(XPNPEP3):c.*6179G>A rs149909864 0.00253
NM_022098.4(XPNPEP3):c.*4530C>T rs190920816 0.00250
NM_022098.4(XPNPEP3):c.*5445G>A rs150740494 0.00243
NM_022098.4(XPNPEP3):c.*1531A>G rs145932052 0.00233
NM_022098.4(XPNPEP3):c.*5547C>G rs191415641 0.00224
NM_022098.4(XPNPEP3):c.*531T>G rs564294482 0.00197
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=) rs139991468 0.00072
NM_022098.4(XPNPEP3):c.*2649A>G rs554227485 0.00014
NM_022098.4(XPNPEP3):c.*390A>G rs142395135
NM_022098.4(XPNPEP3):c.*6178C>G rs193116004
NM_022098.4(XPNPEP3):c.970-8T>C rs547747361

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