ClinVar Miner

List of variants reported as likely benign for microcephalic osteodysplastic primordial dwarfism by 3billion

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)	rs147358856	0.00043
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp)	rs746468689	0.00004
NM_006031.6(PCNT):c.517A>G (p.Thr173Ala)	rs535358423	0.00001

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