List of variants in gene PRX reported as pathogenic for Charcot-Marie-Tooth disease type 4F

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)	rs104894707	0.00006
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)	rs104894714	0.00003
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)	rs104894715	0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs)	rs1599655206
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)	rs3814290
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)	rs752192677
NM_181882.3(PRX):c.2581del (p.Leu861fs)	rs2145728259
NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)	rs1385904344
NM_181882.3(PRX):c.385_394dup (p.Leu132fs)	rs1599656972
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)	rs104894706
NM_181882.3(PRX):c.627del (p.Ala210fs)	rs1599656507
NM_181882.3(PRX):c.979del (p.Asp327fs)	rs1568708792

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