List of variants in gene PRX reported as likely pathogenic for Charcot-Marie-Tooth disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)	rs559968504	0.00002
NM_181882.3(PRX):c.2T>C (p.Met1Thr)	rs1352237419	0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_181882.3(PRX):c.3505C>T (p.Gln1169Ter)	rs767591489	0.00001
NM_181882.3(PRX):c.1561C>T (p.Gln521Ter)	rs200483634
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)	rs1599662669
NM_181882.3(PRX):c.184+2T>A	rs2079511684
NM_181882.3(PRX):c.184+2T>C	rs2079511684
NM_181882.3(PRX):c.2289del (p.Asp765fs)	rs797045102
NM_181882.3(PRX):c.27+1G>T	rs146342432
NM_181882.3(PRX):c.2719C>T (p.Gln907Ter)	rs2079426412
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)	rs1599651726
NM_181882.3(PRX):c.3098del (p.Thr1033fs)	rs2145727241
NM_181882.3(PRX):c.3445_3446insAGATGCCACCTGTG (p.Gly1149fs)
NM_181882.3(PRX):c.3502C>T (p.Gln1168Ter)	rs2145726269

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