ClinVar Miner

List of variants in gene PNPT1 reported as likely pathogenic by Rare Disease Group, Clinical Genetics, Karolinska Institutet

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_033109.5(PNPT1):c.420del (p.Leu141fs)	rs1572834021

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