ClinVar Miner

List of variants in gene RHBDF2 reported as uncertain significance 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: 27
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HGVS dbSNP
NM_024599.5(RHBDF2):c.*160G>A rs886053469
NM_024599.5(RHBDF2):c.*182G>A rs886053468
NM_024599.5(RHBDF2):c.*287C>T rs886053467
NM_024599.5(RHBDF2):c.*310G>A rs886053466
NM_024599.5(RHBDF2):c.*366C>G rs886053465
NM_024599.5(RHBDF2):c.*449C>T rs886053464
NM_024599.5(RHBDF2):c.*536G>A rs765820971
NM_024599.5(RHBDF2):c.*642G>A rs886053463
NM_024599.5(RHBDF2):c.*702C>G rs886053462
NM_024599.5(RHBDF2):c.*726T>G rs886053461
NM_024599.5(RHBDF2):c.1008-15C>T rs375068386
NM_024599.5(RHBDF2):c.1033C>T (p.Pro345Ser) rs777178007
NM_024599.5(RHBDF2):c.1314+11T>C rs763218059
NM_024599.5(RHBDF2):c.1389+12G>A rs375078739
NM_024599.5(RHBDF2):c.1389+8C>T rs886053473
NM_024599.5(RHBDF2):c.1662-8G>A rs886053472
NM_024599.5(RHBDF2):c.1896+11G>T rs374902969
NM_024599.5(RHBDF2):c.2047G>T (p.Asp683Tyr) rs886053471
NM_024599.5(RHBDF2):c.2160G>A (p.Pro720=) rs374520556
NM_024599.5(RHBDF2):c.2248C>T (p.Leu750Phe) rs774772768
NM_024599.5(RHBDF2):c.2452G>A (p.Ala818Thr) rs770206566
NM_024599.5(RHBDF2):c.2538C>T (p.Cys846=) rs886053470
NM_024599.5(RHBDF2):c.414G>T (p.Gln138His) rs763124357
NM_024599.5(RHBDF2):c.446T>C (p.Met149Thr) rs367658130
NM_024599.5(RHBDF2):c.478C>T (p.Arg160Cys) rs751482282
NM_024599.5(RHBDF2):c.767C>T (p.Ser256Leu) rs143672318
NM_024599.5(RHBDF2):c.910del (p.Asp304fs) rs1567876390

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