ClinVar Miner

List of variants in gene PRX studied for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 200
Download table as spreadsheet
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.2763A>G (p.Ile921Met) rs268673 0.36279
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_181882.3(PRX):c.554G>A (p.Arg185His) rs76756143 0.00292
NM_181882.3(PRX):c.3702C>T (p.Gly1234=) rs139950446 0.00291
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
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.1651G>A (p.Val551Met) rs61733448 0.00047
NM_181882.3(PRX):c.2101G>A (p.Val701Met) rs116855701 0.00041
NM_181882.3(PRX):c.540G>A (p.Pro180=) rs371243093 0.00036
NM_181882.3(PRX):c.3708G>A (p.Ala1236=) rs202119177 0.00035
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00023
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_181882.3(PRX):c.1578G>A (p.Ser526=) rs567690884 0.00016
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_181882.3(PRX):c.794G>T (p.Gly265Val) rs374837022 0.00013
NM_181882.3(PRX):c.1129G>T (p.Val377Leu) rs754081921 0.00011
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln) rs764162630 0.00010
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
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.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.597C>T (p.Ala199=) rs144157275 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs775221457 0.00005
NM_181882.3(PRX):c.642C>A (p.Pro214=) rs551628239 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys) rs537664679 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 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.3768G>T (p.Val1256=) rs367862999 0.00004
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00004
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln) rs759435622 0.00004
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala) rs368067072 0.00004
NM_181882.3(PRX):c.747C>T (p.Pro249=) rs3814289 0.00004
NM_181882.3(PRX):c.1714G>A (p.Val572Met) rs370979792 0.00003
NM_181882.3(PRX):c.1827C>T (p.Pro609=) rs751816156 0.00003
NM_181882.3(PRX):c.2295C>T (p.Asp765=) rs377360814 0.00003
NM_181882.3(PRX):c.2649G>A (p.Glu883=) rs747871484 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs761769929 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_181882.3(PRX):c.3939G>A (p.Leu1313=) rs140109585 0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu) rs540526276 0.00003
NM_181882.3(PRX):c.589G>T (p.Glu197Ter) rs753857146 0.00003
NM_181882.3(PRX):c.716C>T (p.Pro239Leu) rs528907584 0.00003
NM_181882.3(PRX):c.10A>G (p.Arg4Gly) rs760534109 0.00002
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu) rs767098112 0.00002
NM_181882.3(PRX):c.1950C>T (p.Pro650=) rs761824931 0.00002
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924 0.00002
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs369224308 0.00002
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val) rs765924621 0.00002
NM_181882.3(PRX):c.336G>A (p.Val112=) rs369268369 0.00002
NM_181882.3(PRX):c.3423G>A (p.Ala1141=) rs370800046 0.00002
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) rs559968504 0.00002
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys) rs771840476 0.00002
NM_181882.3(PRX):c.502C>T (p.Arg168Trp) rs374193988 0.00002
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942 0.00001
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) rs752783967 0.00001
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) rs746394555 0.00001
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) rs201044009 0.00001
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs760423138 0.00001
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs1167411868 0.00001
NM_181882.3(PRX):c.1684G>A (p.Val562Met) rs1234205162 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.182A>G (p.Glu61Gly) rs779928693 0.00001
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs2079438994 0.00001
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter) rs1210729449 0.00001
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs1387072587 0.00001
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs755014286 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.2307G>A (p.Pro769=) rs148655811 0.00001
NM_181882.3(PRX):c.2T>C (p.Met1Thr) rs1352237419 0.00001
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) rs761267361 0.00001
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) rs773246710 0.00001
NM_181882.3(PRX):c.381+22C>A rs1316795222 0.00001
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs749251511 0.00001
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs1486029743 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.556C>T (p.Arg186Trp) rs539484549 0.00001
NM_181882.3(PRX):c.617G>A (p.Arg206Gln) rs765911262 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_181882.3(PRX):c.1077C>G (p.Arg359=) rs1357784205
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs) rs1599655206
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) rs2079443969
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.1638A>G (p.Val546=) rs774541568
NM_181882.3(PRX):c.1639C>T (p.Gln547Ter) rs1254691308
NM_181882.3(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) rs1318870390
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) rs1299743311
NM_181882.3(PRX):c.1695A>G (p.Pro565=) rs1000191235
NM_181882.3(PRX):c.1695A>T (p.Pro565=) rs1000191235
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs774078598
NM_181882.3(PRX):c.1818G>A (p.Pro606=) rs768022787
NM_181882.3(PRX):c.1836C>A (p.Ala612=) rs574899855
NM_181882.3(PRX):c.1857A>G (p.Pro619=) rs779898963
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.1986C>T (p.Val662=) rs1279008110
NM_181882.3(PRX):c.2044G>T (p.Glu682Ter) rs761277865
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr) rs541455813
NM_181882.3(PRX):c.2297T>C (p.Val766Ala) rs1599653064
NM_181882.3(PRX):c.2400G>A (p.Lys800=) rs2079430394
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
NM_181882.3(PRX):c.2424G>A (p.Lys808=) rs2079430194
NM_181882.3(PRX):c.2553_2556del (p.Thr853fs) rs1599652748
NM_181882.3(PRX):c.2611G>C (p.Val871Leu) rs754359052
NM_181882.3(PRX):c.2612T>C (p.Val871Ala) rs201389706
NM_181882.3(PRX):c.2628G>A (p.Met876Ile) rs1307077953
NM_181882.3(PRX):c.2641C>A (p.Arg881=) rs375201649
NM_181882.3(PRX):c.2724G>T (p.Leu908=) rs2079426389
NM_181882.3(PRX):c.2744A>T (p.Glu915Val) rs899773763
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.300G>A (p.Val100=) rs747794739
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu) rs996865233
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.3195C>T (p.Ser1065=) rs2079420208
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) rs2079418168
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) rs1359760408
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) rs2079417519
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) rs778707867
NM_181882.3(PRX):c.3519A>C (p.Thr1173=) rs567285703
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) rs2079412833
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.3772_3773delinsA (p.Gly1258fs) rs1599650427
NM_181882.3(PRX):c.379C>T (p.Leu127=) rs886054441
NM_181882.3(PRX):c.3831C>G (p.Pro1277=) rs577796628
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) rs2079410631
NM_181882.3(PRX):c.385_394dup (p.Leu132fs) rs1599656972
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs767394584
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs748112276
NM_181882.3(PRX):c.4146C>T (p.Gly1382=) rs2079405908
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) rs1296150158
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) rs2079404176
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481
NM_181882.3(PRX):c.500G>A (p.Arg167His) rs757322355
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.680C>T (p.Ala227Val) rs532808153
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243
NM_181882.3(PRX):c.773_774dup (p.Ser259fs) rs1599656136
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762
NM_181882.3(PRX):c.861C>T (p.Ala287=) rs535958285
NM_181882.3(PRX):c.875_906del (p.Val292fs) rs1599655871
NM_181882.3(PRX):c.915_923dup (p.305TLP[3]) rs1170437868
NM_181882.3(PRX):c.924A>T (p.Thr308=) rs1599655829
NM_181882.3(PRX):c.927T>G (p.Leu309=) rs1599655820

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.