ClinVar Miner

List of variants in gene LOC128092249, PCNT studied for microcephalic osteodysplastic primordial dwarfism

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006031.6(PCNT):c.138C>T (p.Val46=)	rs762863150	0.00003
NM_006031.6(PCNT):c.139G>C (p.Asp47His)	rs112837071	0.00003
NM_006031.6(PCNT):c.71A>G (p.Gln24Arg)	rs758228005	0.00001
NM_006031.6(PCNT):c.55-5C>T	rs587784310

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