ClinVar Miner

List of variants reported as uncertain significance for palmoplantar keratoderma-esophageal carcinoma syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.*405T>C rs976788604 0.00035
NM_001005498.4(RHBDF2):c.*160G>A rs886053469 0.00025
NM_001005498.4(RHBDF2):c.*536G>A rs765820971 0.00022
NM_001005498.4(RHBDF2):c.*287C>T rs886053467 0.00018
NM_001005498.4(RHBDF2):c.*182G>A rs886053468 0.00010
NM_001005498.4(RHBDF2):c.*726T>G rs886053461 0.00010
NM_001005498.4(RHBDF2):c.*590C>T rs774762832 0.00009
NM_001005498.4(RHBDF2):c.*642G>A rs886053463 0.00006
NM_001005498.4(RHBDF2):c.*205C>T rs1028206900 0.00004
NM_001005498.4(RHBDF2):c.-43G>A rs990814111 0.00004
NM_001005498.4(RHBDF2):c.1227+11T>C rs763218059 0.00004
NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=) rs374520556 0.00004
NM_001005498.4(RHBDF2):c.*449C>T rs886053464 0.00003
NM_001005498.4(RHBDF2):c.*537G>A rs1318338133 0.00003
NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=) rs202160090 0.00003
NM_001005498.4(RHBDF2):c.*342T>C rs2073549599 0.00001
NM_001005498.4(RHBDF2):c.*606C>T rs2073539386 0.00001
NM_001005498.4(RHBDF2):c.-228C>T rs1488032394 0.00001
NM_001005498.4(RHBDF2):c.1575-8G>A rs886053472 0.00001
NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe) rs774772768 0.00001
NM_001005498.4(RHBDF2):c.2451C>T (p.Cys817=) rs886053470 0.00001
NM_001005498.4(RHBDF2):c.*310G>A rs886053466
NM_001005498.4(RHBDF2):c.*366C>G rs886053465
NM_001005498.4(RHBDF2):c.*475T>G rs2073544332
NM_001005498.4(RHBDF2):c.*53G>T rs1191353898
NM_001005498.4(RHBDF2):c.*702C>G rs886053462
NM_001005498.4(RHBDF2):c.-175A>G rs542504429
NM_001005498.4(RHBDF2):c.-220+12G>A rs1014348759
NM_001005498.4(RHBDF2):c.1039A>G (p.Asn347Asp) rs2073789363
NM_001005498.4(RHBDF2):c.1302+12G>A rs375078739
NM_001005498.4(RHBDF2):c.1302+8C>T rs886053473
NM_001005498.4(RHBDF2):c.151-27G>T rs565386980
NM_001005498.4(RHBDF2):c.1809+11G>T rs374902969
NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr) rs886053471
NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala) rs2073856905
NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=) rs922369882
NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=) rs2073804305
NM_001005498.4(RHBDF2):c.823del (p.Asp275fs) rs1567876390
NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg) rs1315609118
NM_001005498.4(RHBDF2):c.946C>T (p.Pro316Ser) rs777178007
NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu) rs1010002254

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