ClinVar Miner

List of variants reported as pathogenic for Pachyonychia congenita 2 by OMIM

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Total variants: 13
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HGVS dbSNP
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) rs28928898
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) rs28928896
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) rs28928897
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) rs57674130
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) rs28928899
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) rs28928899
NM_000422.3(KRT17):c.287_289CCT[1] (p.Ser97del) rs121912478
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) rs28933088
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) rs28933089
NM_000422.3(KRT17):c.304G>A (p.Val102Met) rs59977263

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