ClinVar Miner

List of variants in gene LZTR1 reported as likely pathogenic for canthal anomaly

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122
NM_006767.4(LZTR1):c.510-2A>G rs1458682620
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276

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