ClinVar Miner

List of variants studied 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: 79
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HGVS dbSNP
NM_024599.5(RHBDF2):c.*116G>A rs553431491
NM_024599.5(RHBDF2):c.*160G>A rs886053469
NM_024599.5(RHBDF2):c.*181C>T rs374842629
NM_024599.5(RHBDF2):c.*182G>A rs886053468
NM_024599.5(RHBDF2):c.*198G>A rs59252239
NM_024599.5(RHBDF2):c.*287C>T rs886053467
NM_024599.5(RHBDF2):c.*310G>A rs886053466
NM_024599.5(RHBDF2):c.*331dup rs58073681
NM_024599.5(RHBDF2):c.*366C>G rs886053465
NM_024599.5(RHBDF2):c.*449C>T rs886053464
NM_024599.5(RHBDF2):c.*511G>A rs11553544
NM_024599.5(RHBDF2):c.*51G>C rs76764510
NM_024599.5(RHBDF2):c.*536G>A rs765820971
NM_024599.5(RHBDF2):c.*551G>A rs2289801
NM_024599.5(RHBDF2):c.*551G>C rs2289801
NM_024599.5(RHBDF2):c.*551G>T rs2289801
NM_024599.5(RHBDF2):c.*580C>T rs111924263
NM_024599.5(RHBDF2):c.*619A>G rs2289802
NM_024599.5(RHBDF2):c.*642G>A rs886053463
NM_024599.5(RHBDF2):c.*698C>G rs8150
NM_024599.5(RHBDF2):c.*702C>G rs886053462
NM_024599.5(RHBDF2):c.*711A>G rs137910466
NM_024599.5(RHBDF2):c.*726T>G rs886053461
NM_024599.5(RHBDF2):c.*742A>C rs7221225
NM_024599.5(RHBDF2):c.-115G>A rs73998928
NM_024599.5(RHBDF2):c.-14G>A rs12943385
NM_024599.5(RHBDF2):c.-272C>A rs551777579
NM_024599.5(RHBDF2):c.-297C>T rs571688447
NM_024599.5(RHBDF2):c.-305C>G rs554316005
NM_024599.5(RHBDF2):c.1008-15C>T rs375068386
NM_024599.5(RHBDF2):c.1033C>T (p.Pro345Ser) rs777178007
NM_024599.5(RHBDF2):c.1036G>A (p.Gly346Arg) rs144817869
NM_024599.5(RHBDF2):c.1091G>A (p.Arg364Gln) rs146134173
NM_024599.5(RHBDF2):c.1116C>T (p.Gly372=) rs61742551
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.1467C>A (p.Arg489=) rs34005184
NM_024599.5(RHBDF2):c.1483C>T (p.Arg495Trp) rs143503813
NM_024599.5(RHBDF2):c.1573A>G (p.Lys525Glu) rs150723002
NM_024599.5(RHBDF2):c.1582G>T (p.Asp528Tyr) rs11553545
NM_024599.5(RHBDF2):c.1662-8G>A rs886053472
NM_024599.5(RHBDF2):c.1686C>T (p.Ser562=) rs145102618
NM_024599.5(RHBDF2):c.1725+12T>C rs114994065
NM_024599.5(RHBDF2):c.1725+7G>A rs201989863
NM_024599.5(RHBDF2):c.1726-11C>G rs141461044
NM_024599.5(RHBDF2):c.1771A>G (p.Met591Val) rs73998915
NM_024599.5(RHBDF2):c.1896+11G>T rs374902969
NM_024599.5(RHBDF2):c.1896+7C>T rs200007588
NM_024599.5(RHBDF2):c.1899G>A (p.Val633=) rs138683747
NM_024599.5(RHBDF2):c.1924C>T (p.Leu642=) rs77626078
NM_024599.5(RHBDF2):c.199G>T (p.Ala67Ser) rs3809694
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.2352C>T (p.Ala784=) rs115094923
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.28A>C (p.Ser10Arg) rs80133178
NM_024599.5(RHBDF2):c.300G>A (p.Glu100=) rs146553433
NM_024599.5(RHBDF2):c.31G>A (p.Val11Met) rs142019309
NM_024599.5(RHBDF2):c.326G>A (p.Arg109His) rs143449348
NM_024599.5(RHBDF2):c.364G>A (p.Ala122Thr) rs114238341
NM_024599.5(RHBDF2):c.401G>A (p.Gly134Glu) rs142642633
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.448C>T (p.Arg150Cys) rs187556554
NM_024599.5(RHBDF2):c.478C>T (p.Arg160Cys) rs751482282
NM_024599.5(RHBDF2):c.597G>A (p.Pro199=) rs140265206
NM_024599.5(RHBDF2):c.612G>A (p.Arg204=) rs151290253
NM_024599.5(RHBDF2):c.623C>T (p.Pro208Leu) rs3744045
NM_024599.5(RHBDF2):c.633G>A (p.Pro211=) rs3744044
NM_024599.5(RHBDF2):c.700C>T (p.Arg234Cys) rs138968491
NM_024599.5(RHBDF2):c.745G>A (p.Ala249Thr) rs34814954
NM_024599.5(RHBDF2):c.767C>T (p.Ser256Leu) rs143672318
NM_024599.5(RHBDF2):c.768G>A (p.Ser256=) rs33995520
NM_024599.5(RHBDF2):c.791G>A (p.Arg264Gln) rs145136848
NM_024599.5(RHBDF2):c.875C>T (p.Ser292Phe) rs116968311
NM_024599.5(RHBDF2):c.910del (p.Asp304fs) rs1567876390

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