ClinVar Miner

List of variants studied for Wilson-Turner syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_031206.7(LAS1L):c.1691T>C (p.Val564Ala) rs148989578 0.00148
NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu) rs148048579 0.00060
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=) rs200815004 0.00022
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile) rs200862250 0.00019
NM_031206.7(LAS1L):c.1002C>T (p.Pro334=) rs146920304 0.00011
NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu) rs1006077682 0.00010
NM_031206.7(LAS1L):c.99G>C (p.Ser33=) rs779407196 0.00008
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_031206.7(LAS1L):c.1860C>T (p.Ala620=) rs374883101 0.00007
NM_031206.7(LAS1L):c.754G>A (p.Val252Met) rs762043715 0.00007
NM_031206.7(LAS1L):c.75A>G (p.Gly25=) rs1026704874 0.00007
NM_031206.7(LAS1L):c.940G>A (p.Val314Ile) rs137948118 0.00007
NM_031206.7(LAS1L):c.159G>A (p.Gln53=) rs144560954 0.00006
NM_031206.7(LAS1L):c.1911A>G (p.Ala637=) rs201733607 0.00006
NM_031206.7(LAS1L):c.1269C>T (p.Thr423=) rs188766357 0.00005
NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala) rs371394378 0.00005
NM_031206.7(LAS1L):c.937G>A (p.Gly313Ser) rs745313876 0.00005
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=) rs373278066 0.00004
NM_031206.7(LAS1L):c.132C>T (p.Ala44=) rs377215853 0.00003
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met) rs145338657 0.00003
NM_031206.7(LAS1L):c.1270G>A (p.Val424Ile) rs761006702 0.00002
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met) rs1190754458 0.00002
NM_031206.7(LAS1L):c.1371C>T (p.Ser457=) rs761061736 0.00002
NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys) rs762931496 0.00002
NM_031206.7(LAS1L):c.186C>T (p.Asp62=) rs751173128 0.00002
NM_031206.7(LAS1L):c.1927+9del rs774312008 0.00002
NM_031206.7(LAS1L):c.21C>T (p.Ala7=) rs373165522 0.00002
NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr) rs750436732 0.00002
NM_031206.7(LAS1L):c.747C>T (p.Ser249=) rs745356580 0.00002
NM_031206.7(LAS1L):c.1392G>A (p.Arg464=) rs1238870516 0.00001
NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys) rs370120927 0.00001
NM_031206.7(LAS1L):c.231G>A (p.Arg77=) rs901839092 0.00001
NM_031206.7(LAS1L):c.381A>G (p.Ser127=) rs992864125 0.00001
NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg) rs758854025 0.00001
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr) rs1367442721 0.00001
NM_031206.7(LAS1L):c.837G>A (p.Glu279=) rs775979610 0.00001
NM_031206.7(LAS1L):c.948C>T (p.Cys316=) rs1410871672 0.00001
NM_031206.7(LAS1L):c.1042+11G>T rs1243724661
NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg) rs867562406
NM_031206.7(LAS1L):c.1083A>G (p.Pro361=)
NM_031206.7(LAS1L):c.108C>T (p.Leu36=)
NM_031206.7(LAS1L):c.1093+18C>T
NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile) rs186130633
NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu) rs186130633
NM_031206.7(LAS1L):c.1129C>G (p.Pro377Ala)
NM_031206.7(LAS1L):c.1165C>T (p.Leu389=)
NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser) rs1569438242
NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)
NM_031206.7(LAS1L):c.1209C>T (p.Leu403=)
NM_031206.7(LAS1L):c.1237G>A (p.Gly413Arg) rs1602612611
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile) rs2068997748
NM_031206.7(LAS1L):c.1301-10T>C
NM_031206.7(LAS1L):c.1301-18T>A
NM_031206.7(LAS1L):c.1449-15C>T rs1030269090
NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp) rs1556301877
NM_031206.7(LAS1L):c.1505G>A (p.Arg502His)
NM_031206.7(LAS1L):c.1570C>A (p.Pro524Thr)
NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala) rs2068725707
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
NM_031206.7(LAS1L):c.1662A>G (p.Gln554=)
NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del) rs747219544
NM_031206.7(LAS1L):c.1770G>A (p.Glu590=) rs1602585869
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1]) rs766197666
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del) rs750470319
NM_031206.7(LAS1L):c.1806G>A (p.Glu602=) rs2068717941
NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu)
NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala) rs2148270110
NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile) rs2148270017
NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu) rs1556298998
NM_031206.7(LAS1L):c.2022T>C (p.Tyr674=) rs929643656
NM_031206.7(LAS1L):c.204C>T (p.Tyr68=) rs2069704573
NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp) rs762602796
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) rs900809839
NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)
NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)
NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser)
NM_031206.7(LAS1L):c.2166G>A (p.Gly722=)
NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg)
NM_031206.7(LAS1L):c.222G>A (p.Thr74=) rs369263577
NM_031206.7(LAS1L):c.236+10C>G
NM_031206.7(LAS1L):c.311G>T (p.Gly104Val)
NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp) rs2069620231
NM_031206.7(LAS1L):c.362+15G>A
NM_031206.7(LAS1L):c.362+20G>C
NM_031206.7(LAS1L):c.432+15G>A
NM_031206.7(LAS1L):c.433-19C>T
NM_031206.7(LAS1L):c.43G>C (p.Gly15Arg)
NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn) rs1569443405
NM_031206.7(LAS1L):c.515-5del
NM_031206.7(LAS1L):c.515-6C>G rs1379421207
NM_031206.7(LAS1L):c.594G>A (p.Glu198=) rs2148313376
NM_031206.7(LAS1L):c.639A>G (p.Glu213=)
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu) rs778389447
NM_031206.7(LAS1L):c.704G>A (p.Ser235Asn) rs755168381
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) rs2069367677
NM_031206.7(LAS1L):c.717T>C (p.Asp239=)
NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)
NM_031206.7(LAS1L):c.801A>G (p.Glu267=) rs2148311015
NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly) rs1173514495
NM_031206.7(LAS1L):c.882T>A (p.Ile294=) rs2148306861
NM_031206.7(LAS1L):c.900G>A (p.Pro300=)
NM_031206.7(LAS1L):c.942_956+6dup
NM_031206.7(LAS1L):c.947G>A (p.Cys316Tyr)
Single allele

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