ClinVar Miner

List of variants in gene GLI2 reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
GLI2, 1-BP DEL, NT2274
GLI2, 1256TER
NM_001374353.1(GLI2):c.1138G>T (p.Glu380Ter) rs374155310
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) rs121917707
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) rs121917708
NM_001374353.1(GLI2):c.2030_2033del (p.Leu677fs) rs587777456
NM_001374353.1(GLI2):c.2311_2317del (p.Leu771fs) rs587777455
NM_001374353.1(GLI2):c.864_865del (p.His289fs) rs398122882

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