List of variants in gene PNKP reported as uncertain significance for Charcot-Marie-Tooth disease type 2

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.290A>G (p.Asn97Ser)	rs140290151	0.00019
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr)	rs772610025	0.00004
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys)	rs773641701	0.00001
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro)	rs377619541
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr)	rs3739168

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