ClinVar Miner

List of variants in gene GNPNAT1 reported as pathogenic for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_198066.4(GNPNAT1):c.226G>A (p.Glu76Lys) rs2139964469

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