ClinVar Miner

List of variants in gene RHBDF2 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:
Gene type:
ClinVar version:
Total variants: 2
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NM_024599.5(RHBDF2):c.557T>C (p.Ile186Thr) rs387907129
NM_024599.5(RHBDF2):c.566C>T (p.Pro189Leu) rs387907130

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