ClinVar Miner

List of variants in gene GORAB 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: 5
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HGVS dbSNP gnomAD frequency
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152281.3(GORAB):c.287del (p.Gly96fs)
NM_152281.3(GORAB):c.408_409del (p.Lys137fs) rs1085307068
NM_152281.3(GORAB):c.5del (p.Ala2fs) rs1571232872

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