ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_181882.3(PRX):c.-236G>A rs552436076 0.00317
NM_181882.3(PRX):c.*144C>T rs189487790 0.00143
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp) rs201337455 0.00018
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.493C>T (p.Arg165Cys) rs555499679 0.00003

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