ClinVar Miner

List of variants studied for pachyonychia congenita 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
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.287CCT[1] (p.Ser97del) rs121912478
NM_000422.3(KRT17):c.834+5G>A rs190234778

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