ClinVar Miner

List of variants studied for bone disorder by Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_024312.5(GNPTAB):c.3488del (p.Thr1163fs) rs1566067386
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter) rs2034926616

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