ClinVar Miner

List of variants reported as benign 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: 64
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HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu) rs3744045 0.79851
NM_001005498.4(RHBDF2):c.151-39G>T rs3809694 0.43017
NM_001005498.4(RHBDF2):c.*698C>G rs8150 0.33822
NM_001005498.4(RHBDF2):c.-14G>A rs12943385 0.12261
NM_001005498.4(RHBDF2):c.*619A>G rs2289802 0.07609
NM_001005498.4(RHBDF2):c.1029C>T (p.Gly343=) rs61742551 0.04902
NM_001005498.4(RHBDF2):c.*511G>A rs11553544 0.03486
NM_001005498.4(RHBDF2):c.*51G>C rs76764510 0.03469
NM_001005498.4(RHBDF2):c.*580C>T rs111924263 0.02655
NM_001005498.4(RHBDF2):c.658G>A (p.Ala220Thr) rs34814954 0.02225
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) rs73998915 0.02086
NM_001005498.4(RHBDF2):c.-115G>A rs73998928 0.01811
NM_001005498.4(RHBDF2):c.1638+12T>C rs114994065 0.01225
NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=) rs77626078 0.01225
NM_001005498.4(RHBDF2):c.*198G>A rs59252239 0.01195
NM_001005498.4(RHBDF2):c.788C>T (p.Ser263Phe) rs116968311 0.00437
NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr) rs114238341 0.00418
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) rs138683747 0.00390
NM_024599.5(RHBDF2):c.-305C>G rs554316005 0.00360
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) rs80133178 0.00355
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_001005498.4(RHBDF2):c.*711A>G rs137910466 0.00300
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) rs115094923 0.00277
NM_001005498.4(RHBDF2):c.1809+7C>T rs200007588 0.00257
NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=) rs145102618 0.00202
NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=) rs151290253 0.00173
NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=) rs33995520 0.00154
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_001005498.4(RHBDF2):c.*116G>A rs553431491 0.00086
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) rs140265206 0.00082
NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=) rs3744044 0.00082
NM_001005498.4(RHBDF2):c.-272C>A rs551777579 0.00064
NM_001005498.4(RHBDF2):c.*181C>T rs374842629 0.00059
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) rs140433374 0.00052
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00048
NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln) rs145136848 0.00037
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) rs146553433 0.00033
NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys) rs138968491 0.00024
NM_001005498.4(RHBDF2):c.949G>A (p.Gly317Arg) rs144817869 0.00021
NM_001005498.4(RHBDF2):c.1004G>A (p.Arg335Gln) rs146134173 0.00019
NM_001005498.4(RHBDF2):c.1638+7G>A rs201989863 0.00019
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) rs140196536 0.00018
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) rs142642633 0.00016
NM_001005498.4(RHBDF2):c.921-15C>T rs375068386 0.00016
NM_001005498.4(RHBDF2):c.239G>A (p.Arg80His) rs143449348 0.00013
NM_001005498.4(RHBDF2):c.25G>A (p.Gly9Arg) rs138667763 0.00013
NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln) rs200821841 0.00011
NM_001005498.4(RHBDF2):c.238C>T (p.Arg80Cys) rs369829771 0.00011
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) rs187556554 0.00011
NM_001005498.4(RHBDF2):c.171G>A (p.Leu57=) rs144977361 0.00008
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) rs770206566 0.00006
NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=) rs529460959 0.00005
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met) rs575187651 0.00004
NM_001005498.4(RHBDF2):c.*703G>A rs576948274 0.00001
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val) rs147599098 0.00001
NM_001005498.4(RHBDF2):c.*331dup rs58073681
NM_001005498.4(RHBDF2):c.*551G>A rs2289801
NM_001005498.4(RHBDF2):c.*551G>C rs2289801
NM_001005498.4(RHBDF2):c.*551G>T rs2289801
NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=) rs34005184
NM_001005498.4(RHBDF2):c.1639-11C>G rs141461044
NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp) rs372953205
NM_024599.5(RHBDF2):c.*742A>C rs7221225

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