ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 348
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HGVS dbSNP
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) rs863224413
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=) rs774605205
NM_006096.3(NDRG1):c.129T>C (p.Ser43=) rs758024351
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.3(NDRG1):c.594+8G>T rs767524421
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) rs143549909
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.69C>A (p.Ile23=) rs369862936
NM_006096.3(NDRG1):c.755+9C>T rs756756059
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) rs368468160
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) rs141078746
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=)
NM_006096.4(NDRG1):c.135C>T (p.His45=)
NM_006096.4(NDRG1):c.165C>T (p.Asn55=)
NM_006096.4(NDRG1):c.195C>T (p.Ile65=)
NM_006096.4(NDRG1):c.285C>T (p.Asp95=)
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
NM_006096.4(NDRG1):c.30C>T (p.Leu10=)
NM_006096.4(NDRG1):c.321C>T (p.Pro107=)
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
NM_006096.4(NDRG1):c.438A>C (p.Leu146=)
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
NM_006096.4(NDRG1):c.453A>G (p.Leu151=)
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
NM_006096.4(NDRG1):c.594+10G>A
NM_006096.4(NDRG1):c.594+9C>T
NM_006096.4(NDRG1):c.698+9A>G
NM_006096.4(NDRG1):c.702G>A (p.Arg234=)
NM_006096.4(NDRG1):c.856-5C>T
NM_006096.4(NDRG1):c.975G>A (p.Arg325=)
NM_006096.4(NDRG1):c.987C>T (p.Ala329=)
NM_006096.4(NDRG1):c.999C>T (p.Ser333=)
NM_014845.5(FIG4):c.102G>A (p.Thr34=) rs145711919
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=)
NM_014845.5(FIG4):c.1435-8C>T rs754607430
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1755C>T (p.Ala585=) rs377111248
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.366T>C (p.His122=) rs772376305
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.6(FIG4):c.1272-10C>T
NM_014845.6(FIG4):c.1386A>G (p.Glu462=)
NM_014845.6(FIG4):c.1620C>T (p.Thr540=)
NM_014845.6(FIG4):c.2232C>T (p.Ser744=)
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=)
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
NM_014845.6(FIG4):c.2574T>C (p.Asp858=)
NM_014845.6(FIG4):c.289+10C>A
NM_014845.6(FIG4):c.351G>A (p.Ala117=)
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
NM_014845.6(FIG4):c.876+8G>A
NM_016156.5(MTMR2):c.1303T>C (p.Leu435=) rs767737380
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1757G>A (p.Arg586Gln) rs61735576
NM_016156.5(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) rs372937811
NM_016156.5(MTMR2):c.297C>T (p.Gly99=) rs772347980
NM_016156.5(MTMR2):c.469-9C>A rs779741464
NM_016156.5(MTMR2):c.507G>A (p.Gly169=) rs753188177
NM_016156.5(MTMR2):c.624A>G (p.Leu208=) rs979063255
NM_016156.5(MTMR2):c.655-7C>T rs775390447
NM_016156.5(MTMR2):c.75G>A (p.Leu25=) rs1376231939
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=)
NM_016156.6(MTMR2):c.1480-4G>C
NM_016156.6(MTMR2):c.1770+7G>C
NM_016156.6(MTMR2):c.1770+9_1770+20del
NM_016156.6(MTMR2):c.33C>T (p.Gly11=)
NM_016156.6(MTMR2):c.984T>C (p.Val328=)
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1141A>G rs752086513
NM_020956.2(PRX):c.*1198G>A rs146323928
NM_020956.2(PRX):c.*1231A>C rs150772010
NM_020956.2(PRX):c.*1334G>T rs754081921
NM_020956.2(PRX):c.*1420C>T rs377184301
NM_020956.2(PRX):c.*1574G>A rs142064826
NM_020956.2(PRX):c.*1666G>A rs757009052
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1783G>A rs567690884
NM_020956.2(PRX):c.*1829C>T rs201337455
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*2032C>T rs751816156
NM_020956.2(PRX):c.*2140C>T rs763132536
NM_020956.2(PRX):c.*2434C>T rs144975214
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*2497C>T rs142637195
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2699G>C rs116139153
NM_020956.2(PRX):c.*2935C>T rs878855283
NM_020956.2(PRX):c.*3037T>C rs145226687
NM_020956.2(PRX):c.*3121G>T rs1555800751
NM_020956.2(PRX):c.*3315A>G rs148600818
NM_020956.2(PRX):c.*3350G>A rs186086914
NM_020956.2(PRX):c.*3493C>A rs375122789
NM_020956.2(PRX):c.*3571G>A rs952933935
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*3580C>T rs755560307
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3754C>T rs367876251
NM_020956.2(PRX):c.*3913G>A rs202119177
NM_020956.2(PRX):c.*4009C>T rs553825184
NM_020956.2(PRX):c.*4036C>G rs577796628
NM_020956.2(PRX):c.*4043G>C rs146205352
NM_020956.2(PRX):c.*4072C>T rs759245840
NM_020956.2(PRX):c.*4144G>A rs140109585
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4357G>A rs756887163
NM_020956.2(PRX):c.*4429C>G rs1555800370
NM_020956.2(PRX):c.*4522C>T rs372280596
NM_020956.2(PRX):c.*650G>A rs142436391
NM_020956.2(PRX):c.*704C>T rs10425452
NM_020956.2(PRX):c.*745G>A rs371243093
NM_020956.2(PRX):c.*785C>T rs45521038
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*847C>A rs551628239
NM_020956.2(PRX):c.*924G>A rs77917609
NM_020956.2(PRX):c.*952C>T rs3814289
NM_020956.2(PRX):c.*976C>T rs1555801357
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.102A>C (p.Val34=) rs761347226
NM_020956.2(PRX):c.185-6C>T rs747043680
NM_020956.2(PRX):c.185-8G>A rs768814221
NM_020956.2(PRX):c.185-9C>T rs1555801635
NM_020956.2(PRX):c.27+8C>A rs769214562
NM_020956.2(PRX):c.336G>A (p.Val112=) rs369268369
NM_024577.3(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.3(SH3TC2):c.*16900_*16901delCA rs71957589
NM_024577.3(SH3TC2):c.*21482_*21485delAAAC rs146796490
NM_024577.3(SH3TC2):c.*22553dup rs55932017
NM_024577.3(SH3TC2):c.*858_*861del rs5872107
NM_024577.3(SH3TC2):c.*8622del rs562125931
NM_024577.3(SH3TC2):c.1002-7G>A rs752528409
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1106G>A (p.Arg369His)
NM_024577.3(SH3TC2):c.1177+9C>T rs375581325
NM_024577.3(SH3TC2):c.1178-8C>T rs202042438
NM_024577.3(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1195T>C (p.Phe399Leu) rs144764160
NM_024577.3(SH3TC2):c.1284G>A (p.Glu428=) rs367691494
NM_024577.3(SH3TC2):c.1311C>T (p.Asp437=) rs749587305
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1584C>T (p.Ala528=) rs762967613
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1788T>A (p.Gly596=) rs141893132
NM_024577.3(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) rs182893450
NM_024577.3(SH3TC2):c.1845G>A (p.Val615=) rs914238218
NM_024577.3(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.1947C>T (p.His649=) rs576049662
NM_024577.3(SH3TC2):c.2130G>A (p.Gln710=) rs763652479
NM_024577.3(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.3(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) rs145345364
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.2464C>T (p.Leu822=) rs752906301
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2873-4T>A rs771093927
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629
NM_024577.3(SH3TC2):c.3676-9C>T rs748694034
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612
NM_024577.3(SH3TC2):c.3771G>A (p.Leu1257=) rs1472880531
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.732-6T>C rs1554122676
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.831G>A (p.Thr277=) rs750308484
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1623G>A (p.Thr541=)
NM_030962.3(SBF2):c.1711-8G>T
NM_030962.3(SBF2):c.1725A>C (p.Ala575=)
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1854T>G (p.Thr618=)
NM_030962.3(SBF2):c.1893C>T (p.Ala631=) rs760154688
NM_030962.3(SBF2):c.1965G>A (p.Thr655=)
NM_030962.3(SBF2):c.1971A>G (p.Val657=) rs368639697
NM_030962.3(SBF2):c.2070A>G (p.Glu690=)
NM_030962.3(SBF2):c.2160A>G (p.Gln720=) rs1247703447
NM_030962.3(SBF2):c.2178C>A (p.Thr726=)
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.258T>C (p.Tyr86=)
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2709A>C (p.Gly903=)
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.2807-8A>G
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.3135A>G (p.Lys1045=) rs1554920965
NM_030962.3(SBF2):c.3257-10A>T rs1348371983
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=)
NM_030962.3(SBF2):c.3474C>T (p.Val1158=)
NM_030962.3(SBF2):c.354C>T (p.Pro118=)
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3744C>G (p.Leu1248=)
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.387T>C (p.Tyr129=)
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=)
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4509C>T (p.His1503=) rs138816399
NM_030962.3(SBF2):c.4512T>C (p.Tyr1504=)
NM_030962.3(SBF2):c.4515G>A (p.Val1505=) rs144935862
NM_030962.3(SBF2):c.4611A>G (p.Lys1537=)
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4799C>T (p.Thr1600Ile) rs183468503
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4839A>G (p.Gly1613=)
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.48G>A (p.Glu16=)
NM_030962.3(SBF2):c.4947G>A (p.Leu1649=)
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=)
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5073G>T (p.Val1691=)
NM_030962.3(SBF2):c.5469T>C (p.Arg1823=)
NM_030962.3(SBF2):c.5472G>A (p.Val1824=)
NM_030962.3(SBF2):c.5493T>C (p.Asp1831=)
NM_030962.3(SBF2):c.5526C>A (p.Ile1842=)
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.620-9T>C rs199676895
NM_030962.3(SBF2):c.651A>G (p.Ala217=)
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.936A>G (p.Pro312=)
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_139241.3(FGD4):c.*3920del rs144034303
NM_139241.3(FGD4):c.-484C>A rs79370524
NM_139241.3(FGD4):c.1194G>A (p.Glu398=) rs746263549
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) rs138160928
NM_139241.3(FGD4):c.1512-7A>G rs200542541
NM_139241.3(FGD4):c.1542+7C>T
NM_139241.3(FGD4):c.1635+10A>G
NM_139241.3(FGD4):c.1659C>A (p.Ala553=)
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.1782C>T (p.Ser594=) rs147136365
NM_139241.3(FGD4):c.1920A>G (p.Val640=)
NM_139241.3(FGD4):c.1950T>G (p.Leu650=) rs1358873743
NM_139241.3(FGD4):c.1962G>A (p.Glu654=) rs201822384
NM_139241.3(FGD4):c.201C>T (p.Leu67=)
NM_139241.3(FGD4):c.2106C>T (p.Ser702=) rs777555137
NM_139241.3(FGD4):c.2149G>A (p.Val717Met) rs61753359
NM_139241.3(FGD4):c.2205C>T (p.Ile735=)
NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) rs145115430
NM_139241.3(FGD4):c.255A>T (p.Ala85=) rs139357821
NM_139241.3(FGD4):c.417T>A (p.Pro139=) rs1295234161
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.635A>G (p.Asn212Ser) rs147969494
NM_139241.3(FGD4):c.783T>C (p.Asn261=) rs201678865
NM_181882.3(PRX):c.1308G>A (p.Val436=)
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
NM_181882.3(PRX):c.1647G>C (p.Pro549=)
NM_181882.3(PRX):c.1980G>T (p.Pro660=)
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)
NM_181882.3(PRX):c.2047G>A (p.Val683Met)
NM_181882.3(PRX):c.2100C>T (p.Ala700=)
NM_181882.3(PRX):c.2106C>T (p.Pro702=)
NM_181882.3(PRX):c.2425C>T (p.Leu809=)
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
NM_181882.3(PRX):c.3237T>C (p.Asp1079=)
NM_181882.3(PRX):c.3294G>A (p.Glu1098=)
NM_181882.3(PRX):c.3531A>G (p.Ala1177=)
NM_181882.3(PRX):c.3588A>G (p.Gly1196=)
NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup)
NM_181882.3(PRX):c.624C>T (p.Ala208=)
NM_181882.3(PRX):c.717G>T (p.Pro239=)
NM_181882.3(PRX):c.934C>T (p.Leu312=)

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