ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
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_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_014845.6(FIG4):c.447-564T>C rs6568602 0.46411
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15340
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_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08885
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_014845.6(FIG4):c.2377-19T>C rs72944974 0.05800
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_014845.6(FIG4):c.2377-20_2377-19insC rs201752617 0.03507
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=) rs78120278 0.03339
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
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_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=) rs16920084 0.00752
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
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_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00555
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_024577.4(SH3TC2):c.2868A>G (p.Leu956=) rs115507662 0.00534
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) rs142155860 0.00492
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_016156.6(MTMR2):c.1770+7_1770+12del rs754608173 0.00319
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile) rs146004831 0.00293
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_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val) rs115345208 0.00285
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
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_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_024577.4(SH3TC2):c.1473C>T (p.Phe491=) rs144016931 0.00213
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_024577.4(SH3TC2):c.2873-18T>C rs113514936 0.00154
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_014845.6(FIG4):c.627A>G (p.Leu209=) rs140111406 0.00119
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00074
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
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_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_001370298.3(FGD4):c.1075G>A (p.Val359Ile) rs528790143 0.00050
NM_181882.3(PRX):c.381+18G>A rs147585269 0.00046
NM_030962.4(SBF2):c.4444-18T>G rs143439179 0.00041
NM_181882.3(PRX):c.2101G>A (p.Val701Met) rs116855701 0.00041
NM_024577.4(SH3TC2):c.3017C>T (p.Ser1006Phe) rs144733764 0.00033
NM_181882.3(PRX):c.960G>A (p.Ser320=) rs775367319 0.00033
NM_181882.3(PRX):c.285C>T (p.Cys95=) rs531527827 0.00032
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) rs200732890 0.00030
NM_016156.6(MTMR2):c.1563C>A (p.Leu521=) rs772490648 0.00026
NM_006096.4(NDRG1):c.943+18C>T rs80294106 0.00025
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293 0.00021
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.514-12C>T rs770141264 0.00016
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_030962.4(SBF2):c.5038-14C>T rs200268388 0.00009
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr) rs370701984 0.00008
NM_016156.6(MTMR2):c.993+9G>C rs201595704 0.00008
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_024577.4(SH3TC2):c.1653C>T (p.Phe551=) rs538871220 0.00005
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu) rs771234852 0.00005
NM_030962.4(SBF2):c.1601-20T>C rs200518136 0.00004
NM_181882.3(PRX):c.3852C>T (p.Ser1284=) rs567324732 0.00004
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_181882.3(PRX):c.1539G>A (p.Pro513=) rs187786861 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.493C>T (p.Arg165Cys) rs555499679 0.00003
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_006096.4(NDRG1):c.699-16C>G rs567104964 0.00001
NM_006096.4(NDRG1):c.855+8G>A rs776826543 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_030962.4(SBF2):c.5055G>A (p.Ser1685=) rs375798441 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_001370298.3(FGD4):c.*2928_*2931del rs549931906
NM_001370298.3(FGD4):c.*3148del rs797002948
NM_001370298.3(FGD4):c.*4369dup rs35874340
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_014845.6(FIG4):c.1583+16dup rs769229381
NM_014845.6(FIG4):c.2376+9dup
NM_014845.6(FIG4):c.2377-10del rs200535694
NM_014845.6(FIG4):c.2377-11_2377-10del rs200535694
NM_014845.6(FIG4):c.2377-12_2377-10del
NM_014845.6(FIG4):c.289+18del
NM_014845.6(FIG4):c.289+18dup
NM_014845.6(FIG4):c.447-3del rs11377100
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup rs11377100
NM_014845.6(FIG4):c.447-5_447-3dup
NM_014845.6(FIG4):c.497+7G>A rs140111950
NM_014845.6(FIG4):c.647-10del
NM_014845.6(FIG4):c.647-4del
NM_014845.6(FIG4):c.775+20del
NM_016156.6(MTMR2):c.*1226_*1228del rs142663762
NM_016156.6(MTMR2):c.186+19A>T rs12385798
NM_016156.6(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.6(MTMR2):c.187-17dup rs1195059303
NM_024577.4(SH3TC2):c.*19564dup rs5872105
NM_024577.4(SH3TC2):c.1002-13del
NM_024577.4(SH3TC2):c.1402G>A (p.Ala468Thr)
NM_024577.4(SH3TC2):c.1406C>T (p.Pro469Leu)
NM_024577.4(SH3TC2):c.1407C>G (p.Pro469=)
NM_024577.4(SH3TC2):c.1408A>T (p.Ile470Leu)
NM_024577.4(SH3TC2):c.151+15_151+16del rs569906096
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1923C>T (p.Arg641=)
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr) rs562689036
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.385+4_385+8del rs148930563
NM_030962.4(SBF2):c.1168-13del
NM_030962.4(SBF2):c.142-14del
NM_030962.4(SBF2):c.142-14dup rs530695547
NM_030962.4(SBF2):c.1930-10G>A rs765561519
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.2934+11dup
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.4(SBF2):c.3456-22_3456-18del rs751512324
NM_030962.4(SBF2):c.3652+9CT[2] rs376260584
NM_030962.4(SBF2):c.403-5del
NM_030962.4(SBF2):c.492C>G (p.Val164=) rs559769224
NM_030962.4(SBF2):c.5320-9dup
NM_030962.4(SBF2):c.862-12dup rs766293143
NM_181882.3(PRX):c.3856G>A (p.Gly1286Ser) rs555523161
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

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