List of variants in gene PNKP reported as likely pathogenic for Charcot-Marie-Tooth disease type 2B2

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C	rs199919568	0.00115
NM_007254.4(PNKP):c.636+1G>T	rs1247055716	0.00004
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)	rs796052862
NM_007254.4(PNKP):c.637-1G>C
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)	rs982113263

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