ClinVar Miner

List of variants in gene GLI3 reported as pathogenic for preaxial polydactyly of fingers

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) rs1356013382
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) rs1583729562
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter) rs151222023
NM_000168.6(GLI3):c.473+5G>A rs1784885465

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