List of variants in gene PRX studied for Dejerine-Sottas disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)	rs268674	0.95976
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)	rs268671	0.59048
NM_181882.3(PRX):c.2655T>C (p.Pro885=)	rs268672	0.56968
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)	rs199863083	0.00011
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	rs144305922	0.00008
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)	rs368827070	0.00006
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)	rs758614032	0.00003
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)	rs138437458	0.00003
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)	rs773009397	0.00002
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter)	rs1469912467	0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	rs104894708	0.00001
NM_181882.3(PRX):c.1012del (p.Ala338fs)	rs1555801290
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs)	rs2079443119
NM_181882.3(PRX):c.247del (p.Leu83fs)	rs281865061
NM_181882.3(PRX):c.4243G>A (p.Val1415Met)	rs201222650
NM_181882.3(PRX):c.4330G>C (p.Glu1444Gln)	rs2079403438

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