ClinVar Miner

List of variants in gene LAS1L reported as uncertain significance for X-linked intellectual disability

Included ClinVar conditions (156):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile) rs200862250 0.00018
NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu) rs1006077682 0.00010
NM_031206.7(LAS1L):c.754G>A (p.Val252Met) rs762043715 0.00007
NM_031206.7(LAS1L):c.940G>A (p.Val314Ile) rs137948118 0.00006
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.947G>A (p.Cys316Tyr) rs752507559 0.00005
NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser) rs775900835 0.00004
NM_031206.7(LAS1L):c.1505G>A (p.Arg502His) rs202068829 0.00003
NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg) rs867562406 0.00002
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.1483G>A (p.Glu495Lys) rs762931496 0.00002
NM_031206.7(LAS1L):c.43G>C (p.Gly15Arg) rs1348187426 0.00002
NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr) rs750436732 0.00002
NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile) rs2068997748 0.00001
NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu) rs747791247 0.00001
NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys) rs370120927 0.00001
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) rs900809839 0.00001
NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg) rs758854025 0.00001
NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn) rs773997389 0.00001
NM_031206.7(LAS1L):c.1083A>G (p.Pro361=) rs1303218511
NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu) rs186130633
NM_031206.7(LAS1L):c.1129C>G (p.Pro377Ala) rs2522574984
NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser) rs1569438242
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr) rs2522572962
NM_031206.7(LAS1L):c.1301-10T>C rs2522566388
NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp) rs1556301877
NM_031206.7(LAS1L):c.1570C>A (p.Pro524Thr) rs2068725707
NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala) rs2068725707
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His) rs2522504703
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn) rs2522504387
NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del) rs747219544
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.1937G>A (p.Arg646Gln)
NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu) rs1556298998
NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp) rs762602796
NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly) rs1040782199
NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg) rs1218391209
NM_031206.7(LAS1L):c.311G>T (p.Gly104Val) rs2522706390
NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp) rs2069620231
NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn) rs1569443405
NM_031206.7(LAS1L):c.515-6C>G rs1379421207
NM_031206.7(LAS1L):c.556T>C (p.Cys186Arg)
NM_031206.7(LAS1L):c.650T>C (p.Ile217Thr)
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.725C>T (p.Ala242Val)
NM_031206.7(LAS1L):c.942_956+6dup rs2522633031

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.