List of variants in gene PRX reported as uncertain significance 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: 112

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HGVS	dbSNP	gnomAD frequency
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr)	rs117336941	0.00451
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro)	rs146061247	0.00313
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)	rs147587689	0.00185
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)	rs148939995	0.00180
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)	rs149715830	0.00131
NM_181882.3(PRX):c.719G>A (p.Arg240Gln)	rs77917609	0.00128
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)	rs200033507	0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn)	rs139188673	0.00101
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)	rs147826200	0.00094
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)	rs141686828	0.00063
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg)	rs200332462	0.00058
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr)	rs145203783	0.00054
NM_181882.3(PRX):c.1651G>A (p.Val551Met)	rs61733448	0.00047
NM_181882.3(PRX):c.2832T>C (p.Ala944=)	rs145226687	0.00046
NM_181882.3(PRX):c.966G>T (p.Val322=)	rs139544245	0.00042
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)	rs202119177	0.00034
NM_181882.3(PRX):c.960G>A (p.Ser320=)	rs775367319	0.00032
NM_181882.3(PRX):c.361C>T (p.Arg121Trp)	rs750435566	0.00029
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro)	rs550446238	0.00025
NM_181882.3(PRX):c.993G>A (p.Pro331=)	rs146323928	0.00022
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln)	rs146222815	0.00019
NM_181882.3(PRX):c.500G>C (p.Arg167Pro)	rs757322355	0.00019
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)	rs367876251	0.00015
NM_181882.3(PRX):c.1026A>C (p.Ala342=)	rs150772010	0.00014
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)	rs142064826	0.00014
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)	rs147441856	0.00014
NM_181882.3(PRX):c.718C>T (p.Arg240Trp)	rs199863083	0.00011
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)	rs761277865	0.00010
NM_181882.3(PRX):c.2229C>T (p.Pro743=)	rs144975214	0.00010
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln)	rs764162630	0.00010
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp)	rs144305922	0.00009
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr)	rs368459753	0.00008
NM_181882.3(PRX):c.553C>T (p.Arg185Cys)	rs376863946	0.00008
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)	rs577197549	0.00008
NM_181882.3(PRX):c.*45C>T	rs200778472	0.00007
NM_181882.3(PRX):c.4157C>A (p.Pro1386His)	rs372582520	0.00007
NM_181882.3(PRX):c.683G>A (p.Arg228His)	rs562108874	0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala)	rs753330520	0.00007
NM_181882.3(PRX):c.1500A>G (p.Ser500=)	rs777104457	0.00006
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg)	rs542711361	0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln)	rs368827070	0.00006
NM_181882.3(PRX):c.4317C>T (p.Ser1439=)	rs372280596	0.00006
NM_181882.3(PRX):c.597C>T (p.Ala199=)	rs144157275	0.00006
NM_181882.3(PRX):c.727G>A (p.Gly243Arg)	rs774726424	0.00006
NM_181882.3(PRX):c.992C>T (p.Pro331Leu)	rs566629777	0.00006
NM_181882.3(PRX):c.237C>T (p.Asp79=)	rs376174896	0.00005
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val)	rs373051724	0.00005
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys)	rs537664679	0.00004
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)	rs145790961	0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln)	rs752531623	0.00004
NM_181882.3(PRX):c.2715C>A (p.Thr905=)	rs188765166	0.00004
NM_181882.3(PRX):c.3352G>A (p.Val1118Ile)	rs143654708	0.00004
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys)	rs751742049	0.00004
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln)	rs763294661	0.00004
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)	rs763185527	0.00004
NM_181882.3(PRX):c.*152A>G	rs886054435	0.00003
NM_181882.3(PRX):c.*168C>A	rs1020596240	0.00003
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu)	rs530370432	0.00003
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn)	rs758614032	0.00003
NM_181882.3(PRX):c.2850G>C (p.Gly950=)	rs770520776	0.00003
NM_181882.3(PRX):c.2933A>G (p.Lys978Arg)	rs767386430	0.00003
NM_181882.3(PRX):c.379C>T (p.Leu127=)	rs886054441	0.00003
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)	rs138437458	0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu)	rs540526276	0.00003
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)	rs371887816	0.00002
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)	rs778017594	0.00002
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp)	rs752593001	0.00002
NM_181882.3(PRX):c.833C>T (p.Pro278Leu)	rs886054440	0.00002
NM_181882.3(PRX):c.-198-14C>T	rs886054442	0.00001
NM_181882.3(PRX):c.1184C>T (p.Thr395Ile)	rs1273087776	0.00001
NM_181882.3(PRX):c.1215C>T (p.Pro405=)	rs377184301	0.00001
NM_181882.3(PRX):c.1777A>G (p.Met593Val)	rs1389523539	0.00001
NM_181882.3(PRX):c.2035C>T (p.Arg679Ter)	rs1469912467	0.00001
NM_181882.3(PRX):c.2283G>A (p.Pro761=)	rs1340076007	0.00001
NM_181882.3(PRX):c.2509C>T (p.Leu837=)	rs1177784082	0.00001
NM_181882.3(PRX):c.2536C>T (p.His846Tyr)	rs765595266	0.00001
NM_181882.3(PRX):c.3107C>T (p.Ala1036Val)	rs771237505	0.00001
NM_181882.3(PRX):c.3220G>A (p.Ala1074Thr)	rs886054436	0.00001
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)	rs762157790	0.00001
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)	rs757247849	0.00001
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)	rs781159482	0.00001
NM_181882.3(PRX):c.4109G>A (p.Arg1370His)	rs756687548	0.00001
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)	rs944160754	0.00001
NM_181882.3(PRX):c.732G>A (p.Ala244=)	rs769735682	0.00001
NM_181882.3(PRX):c.825C>T (p.Leu275=)	rs753268672	0.00001
NM_181882.3(PRX):c.-199+7G>C	rs541213273
NM_181882.3(PRX):c.1087C>G (p.Pro363Ala)	rs886054439
NM_181882.3(PRX):c.1088C>T (p.Pro363Leu)
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])	rs1555801137
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)	rs1035002145
NM_181882.3(PRX):c.1818G>A (p.Pro606=)	rs768022787
NM_181882.3(PRX):c.184+3G>T	rs944519032
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)	rs2079438528
NM_181882.3(PRX):c.1869T>G (p.Leu623=)	rs1241434904
NM_181882.3(PRX):c.1891C>G (p.Leu631Val)	rs886054438
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg)	rs748737580
NM_181882.3(PRX):c.2071A>C (p.Met691Leu)	rs886054437
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn)	rs779294844
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)	rs760071236
NM_181882.3(PRX):c.2292C>G (p.Pro764=)	rs142637195
NM_181882.3(PRX):c.2697C>T (p.Pro899=)	rs778762350
NM_181882.3(PRX):c.2746G>C (p.Gly916Arg)	rs775152960
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg)	rs1287415463
NM_181882.3(PRX):c.3397C>T (p.Gln1133Ter)	rs2514800106
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)	rs139120811
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)	rs2079412133
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys)	rs773955274
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)	rs2079409567
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly)	rs369072136
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)	rs2079404139
NM_181882.3(PRX):c.445G>T (p.Ala149Ser)	rs142436391
NM_181882.3(PRX):c.844G>C (p.Ala282Pro)	rs769945580

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