ClinVar Miner

List of variants reported as likely pathogenic for microcephalic osteodysplastic primordial dwarfism by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.3465-1G>A	rs755084205	0.00002
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter)	rs750764149
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del

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