List of variants studied for Pachyonychia congenita 2 by OMIM

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		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys)	rs58730926	0.00001
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.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.287CCT[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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