ClinVar Miner

List of variants reported as benign for autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_024599.5(RHBDF2):c.*331dup rs58073681
NM_024599.5(RHBDF2):c.*51G>C rs76764510
NM_024599.5(RHBDF2):c.*551G>A rs2289801
NM_024599.5(RHBDF2):c.*551G>C rs2289801
NM_024599.5(RHBDF2):c.*580C>T rs111924263
NM_024599.5(RHBDF2):c.*619A>G rs2289802
NM_024599.5(RHBDF2):c.*698C>G rs8150
NM_024599.5(RHBDF2):c.-115G>A rs73998928
NM_024599.5(RHBDF2):c.-14G>A rs12943385
NM_024599.5(RHBDF2):c.1116C>T (p.Gly372=) rs61742551
NM_024599.5(RHBDF2):c.199G>T (p.Ala67Ser) rs3809694
NM_024599.5(RHBDF2):c.28A>C (p.Ser10Arg) rs80133178
NM_024599.5(RHBDF2):c.623C>T (p.Pro208Leu) rs3744045
NM_024599.5(RHBDF2):c.745G>A (p.Ala249Thr) rs34814954
NM_024599.5(RHBDF2):c.875C>T (p.Ser292Phe) rs116968311

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