ClinVar Miner

List of variants in gene GLI2 reported as likely pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.149-877_238del
NM_001374353.1(GLI2):c.1600G>A (p.Ala534Thr) rs1340215600
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs) rs778975466
NM_001374353.1(GLI2):c.1889del (p.Lys630fs) rs1573730110
NM_001374353.1(GLI2):c.1905+1G>A rs1558937172
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001374353.1(GLI2):c.4426_4428del (p.Val1476del)
NM_001374353.1(GLI2):c.900del (p.Ser301fs) rs2105019803

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