ClinVar Miner

List of variants studied for Wilson-Turner syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 19
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NM_001170649.1(LAS1L):c.1737_1739TGA[1] (p.Asp580del) rs750470319
NM_031206.4(LAS1L):c.1082C>G (p.Pro361Arg) rs867562406
NM_031206.4(LAS1L):c.1114G>C (p.Val372Leu)
NM_031206.4(LAS1L):c.1203G>T (p.Arg401Ser) rs1569438242
NM_031206.4(LAS1L):c.1371C>T (p.Ser457=) rs761061736
NM_031206.4(LAS1L):c.1472G>A (p.Gly491Asp) rs1556301877
NM_031206.4(LAS1L):c.159G>A (p.Gln53=) rs144560954
NM_031206.4(LAS1L):c.1691T>C (p.Val564Ala) rs148989578
NM_031206.4(LAS1L):c.1705A>G (p.Lys569Glu)
NM_031206.4(LAS1L):c.1735G>A (p.Val579Ile) rs200862250
NM_031206.4(LAS1L):c.1892G>C (p.Gly631Ala) rs371394378
NM_031206.4(LAS1L):c.2050C>T (p.Arg684Trp) rs762602796
NM_031206.4(LAS1L):c.381A>G (p.Ser127=) rs992864125
NM_031206.4(LAS1L):c.502G>A (p.Asp168Asn) rs1569443405
NM_031206.4(LAS1L):c.715G>T (p.Asp239Tyr)
NM_031206.4(LAS1L):c.747C>T (p.Ser249=) rs745356580
NM_031206.4(LAS1L):c.937G>A (p.Gly313Ser)
NM_031206.4(LAS1L):c.940G>A (p.Val314Ile) rs137948118
NM_031206.4(LAS1L):c.99G>C (p.Ser33=) rs779407196

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