ClinVar Miner

List of variants reported as uncertain significance for palmoplantar keratoderma-esophageal carcinoma syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys) rs150984603 0.00045
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.1531G>A (p.Gly511Ser) rs140196536 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.2365G>A (p.Ala789Thr) rs770206566 0.00006
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr) rs367658130 0.00005
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.1637C>T (p.Pro546Leu) rs756654862 0.00004
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met) rs575187651 0.00004
NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=) rs374520556 0.00004
NM_001005498.4(RHBDF2):c.556G>A (p.Gly186Arg) rs376555925 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.367G>A (p.Gly123Ser) rs777471290 0.00003
NM_001005498.4(RHBDF2):c.1235G>A (p.Arg412Gln) rs377416669 0.00002
NM_001005498.4(RHBDF2):c.1993G>A (p.Ala665Thr) rs745487928 0.00002
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.1375C>G (p.Leu459Val) rs147599098 0.00001
NM_001005498.4(RHBDF2):c.155A>G (p.Lys52Arg) rs765724768 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.1000G>C (p.Asp334His)
NM_001005498.4(RHBDF2):c.1017C>G (p.His339Gln)
NM_001005498.4(RHBDF2):c.1030G>A (p.Val344Met)
NM_001005498.4(RHBDF2):c.1039A>G (p.Asn347Asp) rs2073789363
NM_001005498.4(RHBDF2):c.1051C>T (p.Arg351Cys)
NM_001005498.4(RHBDF2):c.1064G>A (p.Arg355His)
NM_001005498.4(RHBDF2):c.1066A>G (p.Ser356Gly)
NM_001005498.4(RHBDF2):c.1088G>A (p.Arg363Gln)
NM_001005498.4(RHBDF2):c.1102T>C (p.Phe368Leu)
NM_001005498.4(RHBDF2):c.1106A>T (p.Asp369Val) rs769453458
NM_001005498.4(RHBDF2):c.1113C>A (p.His371Gln)
NM_001005498.4(RHBDF2):c.1115G>A (p.Arg372Gln)
NM_001005498.4(RHBDF2):c.1126A>G (p.Thr376Ala)
NM_001005498.4(RHBDF2):c.1130A>G (p.Tyr377Cys)
NM_001005498.4(RHBDF2):c.1144G>A (p.Val382Ile)
NM_001005498.4(RHBDF2):c.1149T>A (p.His383Gln)
NM_001005498.4(RHBDF2):c.1174T>G (p.Cys392Gly)
NM_001005498.4(RHBDF2):c.1189G>T (p.Ala397Ser)
NM_001005498.4(RHBDF2):c.1212C>A (p.His404Gln)
NM_001005498.4(RHBDF2):c.1234C>T (p.Arg412Trp)
NM_001005498.4(RHBDF2):c.1243G>C (p.Gly415Arg)
NM_001005498.4(RHBDF2):c.1244G>T (p.Gly415Val)
NM_001005498.4(RHBDF2):c.1252G>A (p.Glu418Lys)
NM_001005498.4(RHBDF2):c.1258G>A (p.Val420Met)
NM_001005498.4(RHBDF2):c.1282T>G (p.Phe428Val)
NM_001005498.4(RHBDF2):c.1291G>C (p.Gly431Arg)
NM_001005498.4(RHBDF2):c.1300T>C (p.Ser434Pro)
NM_001005498.4(RHBDF2):c.1302+12G>A rs375078739
NM_001005498.4(RHBDF2):c.1302+8C>T rs886053473
NM_001005498.4(RHBDF2):c.1305T>G (p.Ile435Met)
NM_001005498.4(RHBDF2):c.131A>G (p.Gln44Arg)
NM_001005498.4(RHBDF2):c.1322G>A (p.Gly441Glu)
NM_001005498.4(RHBDF2):c.1328A>G (p.Lys443Arg)
NM_001005498.4(RHBDF2):c.1334C>T (p.Ser445Leu)
NM_001005498.4(RHBDF2):c.1345C>T (p.Arg449Trp)
NM_001005498.4(RHBDF2):c.1346G>A (p.Arg449Gln)
NM_001005498.4(RHBDF2):c.1354G>A (p.Gly452Arg)
NM_001005498.4(RHBDF2):c.1363G>A (p.Glu455Lys)
NM_001005498.4(RHBDF2):c.1390_1401del (p.Leu464_Asp467del)
NM_001005498.4(RHBDF2):c.1397G>A (p.Arg466Gln)
NM_001005498.4(RHBDF2):c.1414G>A (p.Val472Ile)
NM_001005498.4(RHBDF2):c.1445C>T (p.Thr482Ile)
NM_001005498.4(RHBDF2):c.1467G>C (p.Glu489Asp)
NM_001005498.4(RHBDF2):c.1493A>G (p.Gln498Arg)
NM_001005498.4(RHBDF2):c.1507C>T (p.Pro503Ser)
NM_001005498.4(RHBDF2):c.151-27G>T rs565386980
NM_001005498.4(RHBDF2):c.151-86G>A
NM_001005498.4(RHBDF2):c.1511C>T (p.Pro504Leu)
NM_001005498.4(RHBDF2):c.1586A>C (p.Glu529Ala)
NM_001005498.4(RHBDF2):c.1618G>A (p.Asp540Asn)
NM_001005498.4(RHBDF2):c.1636C>T (p.Pro546Ser)
NM_001005498.4(RHBDF2):c.1684A>C (p.Met562Leu)
NM_001005498.4(RHBDF2):c.1705C>T (p.Arg569Cys)
NM_001005498.4(RHBDF2):c.1717A>G (p.Ile573Val)
NM_001005498.4(RHBDF2):c.1730G>A (p.Gly577Asp)
NM_001005498.4(RHBDF2):c.1750C>T (p.Arg584Trp)
NM_001005498.4(RHBDF2):c.178G>T (p.Val60Phe)
NM_001005498.4(RHBDF2):c.1796C>T (p.Thr599Ile)
NM_001005498.4(RHBDF2):c.1809+11G>T rs374902969
NM_001005498.4(RHBDF2):c.1810-56G>A
NM_001005498.4(RHBDF2):c.1818C>G (p.Cys606Trp)
NM_001005498.4(RHBDF2):c.1844C>G (p.Pro615Arg)
NM_001005498.4(RHBDF2):c.1918C>T (p.His640Tyr)
NM_001005498.4(RHBDF2):c.1924C>T (p.Leu642Phe)
NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr) rs886053471
NM_001005498.4(RHBDF2):c.1969A>G (p.Lys657Glu)
NM_001005498.4(RHBDF2):c.196C>G (p.Arg66Gly)
NM_001005498.4(RHBDF2):c.1987C>T (p.Arg663Cys)
NM_001005498.4(RHBDF2):c.1988G>A (p.Arg663His)
NM_001005498.4(RHBDF2):c.2032G>A (p.Ala678Thr) rs2073625409
NM_001005498.4(RHBDF2):c.2041A>G (p.Ile681Val)
NM_001005498.4(RHBDF2):c.2064+231A>G
NM_001005498.4(RHBDF2):c.2072C>T (p.Pro691Leu)
NM_001005498.4(RHBDF2):c.2171C>T (p.Ser724Leu)
NM_001005498.4(RHBDF2):c.2174C>T (p.Ala725Val)
NM_001005498.4(RHBDF2):c.226C>A (p.Arg76Ser)
NM_001005498.4(RHBDF2):c.226C>T (p.Arg76Cys)
NM_001005498.4(RHBDF2):c.2284A>G (p.Ile762Val)
NM_001005498.4(RHBDF2):c.2318G>A (p.Arg773Gln)
NM_001005498.4(RHBDF2):c.2329C>G (p.Leu777Val)
NM_001005498.4(RHBDF2):c.2353G>A (p.Gly785Ser)
NM_001005498.4(RHBDF2):c.2371G>A (p.Val791Met)
NM_001005498.4(RHBDF2):c.242G>A (p.Arg81His)
NM_001005498.4(RHBDF2):c.2443C>T (p.Arg815Cys)
NM_001005498.4(RHBDF2):c.2452G>A (p.Glu818Lys)
NM_001005498.4(RHBDF2):c.245A>G (p.Gln82Arg)
NM_001005498.4(RHBDF2):c.2480A>C (p.His827Pro)
NM_001005498.4(RHBDF2):c.268C>T (p.Arg90Cys)
NM_001005498.4(RHBDF2):c.280G>A (p.Ala94Thr)
NM_001005498.4(RHBDF2):c.295G>C (p.Val99Leu)
NM_001005498.4(RHBDF2):c.29G>A (p.Ser10Asn)
NM_001005498.4(RHBDF2):c.29G>T (p.Ser10Ile)
NM_001005498.4(RHBDF2):c.301G>A (p.Gly101Ser)
NM_001005498.4(RHBDF2):c.313G>A (p.Gly105Arg)
NM_001005498.4(RHBDF2):c.32T>G (p.Val11Gly)
NM_001005498.4(RHBDF2):c.338G>A (p.Arg113His)
NM_001005498.4(RHBDF2):c.362G>A (p.Arg121His)
NM_001005498.4(RHBDF2):c.371G>A (p.Arg124His)
NM_001005498.4(RHBDF2):c.37T>C (p.Ser13Pro)
NM_001005498.4(RHBDF2):c.40G>C (p.Val14Leu)
NM_001005498.4(RHBDF2):c.412C>G (p.Gln138Glu)
NM_001005498.4(RHBDF2):c.443C>T (p.Ser148Phe)
NM_001005498.4(RHBDF2):c.458A>T (p.Lys153Met)
NM_001005498.4(RHBDF2):c.484G>T (p.Ala162Ser)
NM_001005498.4(RHBDF2):c.488G>A (p.Arg163Gln)
NM_001005498.4(RHBDF2):c.518T>C (p.Met173Thr)
NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala) rs2073856905
NM_001005498.4(RHBDF2):c.577T>G (p.Phe193Val)
NM_001005498.4(RHBDF2):c.589C>T (p.Arg197Cys)
NM_001005498.4(RHBDF2):c.619A>G (p.Lys207Glu)
NM_001005498.4(RHBDF2):c.62G>T (p.Ser21Ile)
NM_001005498.4(RHBDF2):c.651A>C (p.Gln217His)
NM_001005498.4(RHBDF2):c.65G>A (p.Arg22Gln)
NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=) rs922369882
NM_001005498.4(RHBDF2):c.697G>A (p.Gly233Arg)
NM_001005498.4(RHBDF2):c.700C>G (p.Gln234Glu)
NM_001005498.4(RHBDF2):c.701A>G (p.Gln234Arg)
NM_001005498.4(RHBDF2):c.709C>T (p.Arg237Trp)
NM_001005498.4(RHBDF2):c.70C>T (p.Pro24Ser)
NM_001005498.4(RHBDF2):c.710G>A (p.Arg237Gln)
NM_001005498.4(RHBDF2):c.74C>T (p.Pro25Leu)
NM_001005498.4(RHBDF2):c.766G>A (p.Gly256Arg)
NM_001005498.4(RHBDF2):c.784_785inv (p.Ser262Asp)
NM_001005498.4(RHBDF2):c.820C>A (p.Pro274Thr)
NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=) rs2073804305
NM_001005498.4(RHBDF2):c.823del (p.Asp275fs) rs1567876390
NM_001005498.4(RHBDF2):c.829G>A (p.Val277Ile)
NM_001005498.4(RHBDF2):c.866G>A (p.Arg289Gln)
NM_001005498.4(RHBDF2):c.874C>T (p.Pro292Ser)
NM_001005498.4(RHBDF2):c.889C>T (p.Pro297Ser)
NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg) rs1315609118
NM_001005498.4(RHBDF2):c.935G>A (p.Arg312Gln)
NM_001005498.4(RHBDF2):c.946C>T (p.Pro316Ser) rs777178007
NM_001005498.4(RHBDF2):c.955C>T (p.Arg319Trp)
NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln) rs149436907
NM_001005498.4(RHBDF2):c.958C>T (p.Arg320Cys)
NM_001005498.4(RHBDF2):c.966G>T (p.Lys322Asn)
NM_001005498.4(RHBDF2):c.967C>T (p.Arg323Cys)
NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu) rs1010002254

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