List of variants in gene PNKP reported as likely pathogenic for Inborn genetic diseases

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)	rs372148913	0.00005
NM_007254.4(PNKP):c.865+1G>A	rs762003634	0.00001
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)	rs376854895
NM_007254.4(PNKP):c.937-2A>G	rs1568660279

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