ClinVar Miner

List of variants in gene GLI3 reported as likely pathogenic for Greig cephalopolysyndactyly syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000168.6(GLI3):c.1028+1G>A rs1375768446 0.00001
NC_000007.13:g.(?_42017137)_(42079858_?)dup
NC_000007.13:g.(?_42063047)_(42066031_?)dup
NC_000007.13:g.(?_42116331)_(42116476_?)dup
NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser)
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) rs1562667078
NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn) rs2128710024
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp) rs121917712
NM_000168.6(GLI3):c.367+1G>A
NM_000168.6(GLI3):c.368-1G>C
NM_000168.6(GLI3):c.368-2A>C
NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu) rs1583728402
NM_000168.6(GLI3):c.793del (p.Ala265fs) rs2128741200
NM_000168.6(GLI3):c.827-2A>G rs2128738764

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