ClinVar Miner

List of variants reported as pathogenic for autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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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
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) rs57052654
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) rs57052654
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.1460-2A>C rs113369052
NM_005554.4(KRT6A):c.510_512CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) rs62635294
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) rs62635294
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) rs28933087
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) rs61145796
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) rs60627726
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
NM_024599.5(RHBDF2):c.557T>C (p.Ile186Thr) rs387907129
NM_024599.5(RHBDF2):c.566C>T (p.Pro189Leu) rs387907130

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