ClinVar Miner

List of variants in gene KRT16 reported as pathogenic for Pachyonychia congenita 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) rs59328451
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) rs28928894
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro) rs59349773
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg) rs58293603
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp) rs58608173
NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly) rs587777717
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) rs60723330
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro) rs57424749
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln) rs28928895
NM_005557.4(KRT16):c.386_388CCT[1] (p.Ser130del) rs58181827
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro) rs60944949

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