ClinVar Miner

List of variants reported as likely pathogenic for microcephalic osteodysplastic primordial dwarfism by Baylor Genetics

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)	rs757793925	0.00004
NM_006031.6(PCNT):c.6412dup (p.Val2138fs)	rs746584417	0.00001

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