ClinVar Miner

List of variants reported as likely benign for Wilson-Turner syndrome by Invitae

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_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.1002C>T (p.Pro334=) rs146920304 0.00011
NM_031206.7(LAS1L):c.99G>C (p.Ser33=) rs779407196 0.00008
NM_031206.7(LAS1L):c.1860C>T (p.Ala620=) rs374883101 0.00007
NM_031206.7(LAS1L):c.75A>G (p.Gly25=) rs1026704874 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.132C>T (p.Ala44=) rs377215853 0.00003
NM_031206.7(LAS1L):c.1371C>T (p.Ser457=) rs761061736 0.00002
NM_031206.7(LAS1L):c.186C>T (p.Asp62=) rs751173128 0.00002
NM_031206.7(LAS1L):c.21C>T (p.Ala7=) rs373165522 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.231G>A (p.Arg77=) rs901839092 0.00001
NM_031206.7(LAS1L):c.381A>G (p.Ser127=) rs992864125 0.00001
NM_031206.7(LAS1L):c.837G>A (p.Glu279=) rs775979610 0.00001
NM_031206.7(LAS1L):c.1042+11G>T rs1243724661
NM_031206.7(LAS1L):c.108C>T (p.Leu36=)
NM_031206.7(LAS1L):c.1093+18C>T
NM_031206.7(LAS1L):c.1165C>T (p.Leu389=)
NM_031206.7(LAS1L):c.1209C>T (p.Leu403=)
NM_031206.7(LAS1L):c.1449-15C>T rs1030269090
NM_031206.7(LAS1L):c.1662A>G (p.Gln554=)
NM_031206.7(LAS1L):c.1770G>A (p.Glu590=) rs1602585869
NM_031206.7(LAS1L):c.1806G>A (p.Glu602=) rs2068717941
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.2166G>A (p.Gly722=)
NM_031206.7(LAS1L):c.222G>A (p.Thr74=) rs369263577
NM_031206.7(LAS1L):c.236+10C>G
NM_031206.7(LAS1L):c.362+15G>A
NM_031206.7(LAS1L):c.432+15G>A
NM_031206.7(LAS1L):c.433-19C>T
NM_031206.7(LAS1L):c.515-5del
NM_031206.7(LAS1L):c.594G>A (p.Glu198=) rs2148313376
NM_031206.7(LAS1L):c.639A>G (p.Glu213=)
NM_031206.7(LAS1L):c.717T>C (p.Asp239=)
NM_031206.7(LAS1L):c.801A>G (p.Glu267=) rs2148311015
NM_031206.7(LAS1L):c.882T>A (p.Ile294=) rs2148306861
NM_031206.7(LAS1L):c.900G>A (p.Pro300=)

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