ClinVar Miner

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

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 458
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_001370298.3(FGD4):c.*4991A>G rs1239830 0.98871
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_024577.4(SH3TC2):c.*3136G>A rs1019927 0.97931
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_006096.4(NDRG1):c.*956T>C rs1049697 0.83830
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
NM_024577.4(SH3TC2):c.*15823T>C rs4562031 0.77381
NM_024577.4(SH3TC2):c.*19919T>C rs2217638 0.77125
NM_024577.4(SH3TC2):c.*18554G>T rs10040598 0.76741
NM_024577.4(SH3TC2):c.*16950T>C rs10040798 0.76017
NM_002972.4(SBF1):c.3905-31T>C rs4824117 0.72013
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_024577.4(SH3TC2):c.*17703A>G rs4235739 0.59322
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_024577.4(SH3TC2):c.*16020A>C rs4543254 0.57641
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_002972.4(SBF1):c.1431+27G>A rs2076714 0.53065
NM_024577.4(SH3TC2):c.*11390A>G rs3213854 0.52790
NM_024577.4(SH3TC2):c.*3077C>T rs1045942 0.52772
NM_024577.4(SH3TC2):c.*5490G>A rs1432795 0.52698
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=) rs1053744 0.52056
NM_001370298.3(FGD4):c.*4438A>G rs11052124 0.51721
NM_024577.4(SH3TC2):c.*19040A>G rs930205 0.51121
NM_024577.4(SH3TC2):c.*19573G>A rs4560536 0.51021
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.*7292C>T rs1347130 0.49144
NM_024577.4(SH3TC2):c.*14766T>A rs891919 0.49105
NM_001370298.3(FGD4):c.*5198G>A rs1133509 0.48969
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_014845.6(FIG4):c.447-564T>C rs6568602 0.46411
NM_001370298.3(FGD4):c.*3770G>T rs11052123 0.45391
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) rs2651369 0.45332
NM_024577.4(SH3TC2):c.*16631G>A rs4705303 0.45194
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_006096.4(NDRG1):c.538-132G>C rs2272650 0.41873
NM_001370298.3(FGD4):c.1248-37T>A rs4931641 0.39058
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_002972.4(SBF1):c.56-27G>T rs9616852 0.36389
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_001370298.3(FGD4):c.*1492T>G rs7980205 0.34985
NM_001370298.3(FGD4):c.*1133A>C rs10844268 0.34951
NM_024577.4(SH3TC2):c.*3196T>C rs3763022 0.34686
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_001370298.3(FGD4):c.2046+37A>G rs7970584 0.34437
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_030962.4(SBF2):c.*514C>T rs3829252 0.33836
NM_030962.4(SBF2):c.*1515G>A rs1045634 0.33744
NM_014845.6(FIG4):c.647-18C>A rs2273752 0.33064
NM_006096.4(NDRG1):c.*691G>A rs1049694 0.32591
NM_001370298.3(FGD4):c.*1454A>G rs7964947 0.31826
NM_006096.4(NDRG1):c.699-51A>C rs2233335 0.31793
NM_024577.4(SH3TC2):c.*929G>C rs1432798 0.31381
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_002972.4(SBF1):c.3284-31C>T rs2073278 0.30661
NM_006096.4(NDRG1):c.450+61A>G rs2272651 0.29847
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_016156.6(MTMR2):c.*1419G>A rs496305 0.27825
NM_016156.6(MTMR2):c.*1934T>C rs525404 0.27753
NM_016156.6(MTMR2):c.*1568C>T rs596277 0.27751
NM_016156.6(MTMR2):c.*549G>A rs611020 0.27729
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_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_006096.4(NDRG1):c.855+148T>C rs2233339 0.26454
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_024577.4(SH3TC2):c.*1909G>T rs998304 0.23360
NM_024577.4(SH3TC2):c.*1639T>C rs1007400 0.23355
NM_024577.4(SH3TC2):c.*5799C>T rs17109208 0.23286
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_024577.4(SH3TC2):c.*14562G>A rs17109198 0.22872
NM_024577.4(SH3TC2):c.*14856C>A rs891920 0.22858
NM_024577.4(SH3TC2):c.*2956C>T rs3763020 0.22548
NM_024577.4(SH3TC2):c.*8248G>C rs56309414 0.22436
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) rs5771001 0.20075
NM_024577.4(SH3TC2):c.*6436G>T rs11168079 0.19789
NM_002972.4(SBF1):c.3688+31C>T rs2281439 0.19323
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_024577.4(SH3TC2):c.*719G>A rs10050933 0.18073
NM_024577.4(SH3TC2):c.*5999G>A rs79866394 0.16703
NM_024577.4(SH3TC2):c.*4719C>G rs6885467 0.16464
NM_024577.4(SH3TC2):c.*1309C>T rs1007401 0.16452
NM_024577.4(SH3TC2):c.*6692A>G rs11168078 0.16452
NM_024577.4(SH3TC2):c.*17903A>G rs76444127 0.16396
NM_024577.4(SH3TC2):c.*14621G>T rs17795097 0.16395
NM_024577.4(SH3TC2):c.*20463T>C rs77021631 0.16394
NM_024577.4(SH3TC2):c.*20166T>A rs17795091 0.16389
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15340
NM_002972.4(SBF1):c.4087-25C>T rs2076713 0.14256
NM_000530.8(MPZ):c.*761A>G rs16832786 0.13087
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_024577.4(SH3TC2):c.*10968G>A rs13166730 0.11562
NM_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_006096.4(NDRG1):c.698+84A>G rs11575973 0.10802
NM_002972.4(SBF1):c.55+33G>A rs149886696 0.10536
NM_006096.4(NDRG1):c.891+39C>A rs2233341 0.09513
NM_001370298.3(FGD4):c.*1148C>T rs56110646 0.09020
NM_001370298.3(FGD4):c.*1723C>T rs4931030 0.09014
NM_001370298.3(FGD4):c.*1828A>T rs4931031 0.08985
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08885
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_024577.4(SH3TC2):c.*8756G>T rs7733177 0.08504
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=) rs58335489 0.08274
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_024577.4(SH3TC2):c.*19519G>A rs10039839 0.07821
NM_024577.4(SH3TC2):c.*11852G>T rs13359285 0.07778
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_016156.6(MTMR2):c.*1066T>C rs16922622 0.07419
NM_016156.6(MTMR2):c.*1396C>T rs16922615 0.07185
NM_002972.4(SBF1):c.2106G>A (p.Thr702=) rs5771037 0.06512
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06256
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_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232 0.05085
NM_006096.4(NDRG1):c.*711C>T rs16904866 0.04897
NM_001370298.3(FGD4):c.167-61986C>T rs11052033 0.04887
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_030962.4(SBF2):c.*1144A>G rs3751001 0.04377
NM_024577.4(SH3TC2):c.*1935T>C rs6883926 0.04318
NM_016156.6(MTMR2):c.*1444C>G rs149223349 0.04087
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.*2014T>G rs112404010 0.03885
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_006096.4(NDRG1):c.*834T>A rs79281324 0.03589
NM_001370298.3(FGD4):c.*3630T>C rs73313005 0.03542
NM_001370298.3(FGD4):c.*4128C>T rs12312970 0.03539
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_006096.4(NDRG1):c.*866A>T rs16904865 0.03230
NM_024577.4(SH3TC2):c.*17317G>A rs78254952 0.03209
NM_024577.4(SH3TC2):c.*2397G>A rs17722155 0.03207
NM_024577.4(SH3TC2):c.*3860G>A rs1432797 0.03207
NM_024577.4(SH3TC2):c.*10485G>A rs76931184 0.03206
NM_024577.4(SH3TC2):c.*6162C>T rs17795115 0.03204
NM_024577.4(SH3TC2):c.*2900G>T rs3763019 0.03116
NM_024577.4(SH3TC2):c.*11120G>A rs2069087 0.03085
NM_024577.4(SH3TC2):c.*2428C>T rs149384180 0.03078
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_001370298.3(FGD4):c.*4652T>C rs16920125 0.02707
NM_024577.4(SH3TC2):c.*14411G>A rs143623684 0.02369
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_001370298.3(FGD4):c.*4211T>C rs75583772 0.02209
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
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_024577.4(SH3TC2):c.*20207C>T rs114079860 0.02033
NM_002972.4(SBF1):c.3006C>T (p.Asp1002=) rs77064034 0.01961
NM_006096.4(NDRG1):c.*100G>A rs2233348 0.01904
NM_006096.4(NDRG1):c.*1135G>A rs10675 0.01865
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_024577.4(SH3TC2):c.*12969C>A rs76955068 0.01682
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_016156.6(MTMR2):c.*2406C>T rs16922613 0.01655
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_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_001370298.3(FGD4):c.*2203T>C rs41276678 0.01601
NM_024577.4(SH3TC2):c.*18299C>T rs147903089 0.01595
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_016156.6(MTMR2):c.*1952G>A rs118033833 0.01538
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_030962.4(SBF2):c.*1399T>C rs60154961 0.01504
NM_030962.4(SBF2):c.*1413A>G rs59613534 0.01502
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_002972.4(SBF1):c.55+9C>T rs184600817 0.01375
NM_001370298.3(FGD4):c.*4454G>A rs147515673 0.01373
NM_001370298.3(FGD4):c.*3340A>C rs75320947 0.01342
NM_024577.4(SH3TC2):c.*14750A>G rs149133999 0.01302
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_024577.4(SH3TC2):c.*10767G>A rs139720866 0.01293
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_001370298.3(FGD4):c.167-61799G>C rs77113168 0.01285
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_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_001370298.3(FGD4):c.*1007G>A rs114843464 0.01214
NM_001370298.3(FGD4):c.*22G>A rs114284024 0.01207
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_006096.4(NDRG1):c.*69C>T rs114738844 0.01142
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) rs192771726 0.01139
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
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_024577.4(SH3TC2):c.*2237G>A rs76481943 0.01060
NM_024577.4(SH3TC2):c.*14894G>A rs17109192 0.01038
NM_002972.4(SBF1):c.4368+17G>A rs116526390 0.01026
NM_002972.4(SBF1):c.3818G>A (p.Gly1273Asp) rs147879775 0.01020
NM_016156.6(MTMR2):c.*85A>C rs578159 0.01009
NM_001370298.3(FGD4):c.*4063A>G rs62642552 0.00933
NM_001370298.3(FGD4):c.*792A>T rs140601094 0.00932
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_024577.4(SH3TC2):c.*6242A>G rs142279453 0.00889
NM_024577.4(SH3TC2):c.*122G>T rs114151926 0.00888
NM_024577.4(SH3TC2):c.*11604G>A rs143229015 0.00876
NM_030962.4(SBF2):c.*177A>C rs192542785 0.00872
NM_024577.4(SH3TC2):c.*8053G>A rs115027318 0.00859
NM_006096.4(NDRG1):c.*1294T>C rs144034977 0.00858
NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) rs149528827 0.00850
NM_024577.4(SH3TC2):c.*3694T>A rs115774169 0.00844
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_030962.4(SBF2):c.*291C>T rs114604750 0.00828
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_002972.4(SBF1):c.3827-4T>C rs114603288 0.00786
NM_002972.4(SBF1):c.56-5C>T rs79658113 0.00784
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=) rs16920084 0.00752
NM_030962.4(SBF2):c.*51T>C rs41275194 0.00749
NM_002972.4(SBF1):c.4267-15C>T rs115969873 0.00701
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) rs114880473 0.00694
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_001370298.3(FGD4):c.*290G>A rs79732949 0.00658
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_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_001370298.3(FGD4):c.*4192G>T rs77065831 0.00605
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_024577.4(SH3TC2):c.*15061C>T rs115722370 0.00585
NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) rs148021361 0.00573
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_024577.4(SH3TC2):c.*12190G>A rs116091693 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_024577.4(SH3TC2):c.*10101C>T rs552099019 0.00533
NM_024577.4(SH3TC2):c.*10099A>T rs570266229 0.00531
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.*19270G>A rs149188140 0.00516
NM_024577.4(SH3TC2):c.*2862G>A rs116548620 0.00495
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_024577.4(SH3TC2):c.*10120C>A rs13355933 0.00493
NM_024577.4(SH3TC2):c.*47C>T rs79738100 0.00493
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) rs142155860 0.00492
NM_024577.4(SH3TC2):c.*7251A>G rs73795731 0.00491
NM_030962.4(SBF2):c.-118G>T rs563422015 0.00491
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_024577.4(SH3TC2):c.*13514A>G rs78516040 0.00490
NM_001370298.3(FGD4):c.*27G>A rs150192477 0.00475
NM_024577.4(SH3TC2):c.*1246G>A rs142628780 0.00469
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_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_001370298.3(FGD4):c.*1564T>C rs77836862 0.00399
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.*6051G>A rs146293131 0.00361
NM_002972.4(SBF1):c.4813-18C>T rs41281541 0.00348
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_001370298.3(FGD4):c.*4956T>A rs149215917 0.00333
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
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_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
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_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
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_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
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_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_024577.4(SH3TC2):c.*4638A>T rs117883175 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.*391G>C rs117139060 0.00153
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.*39A>C rs76579569 0.00127
NM_024577.4(SH3TC2):c.*4555A>G rs117287440 0.00126
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.137A>C (p.Gln46Pro) rs146162276 0.00114
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.*18699T>G rs117371981 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_024577.4(SH3TC2):c.*9504G>A rs17722113 0.00073
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_024577.4(SH3TC2):c.*4603C>T rs144955630 0.00027
NM_024577.4(SH3TC2):c.*6623G>A rs78100143 0.00027
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_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_030962.4(SBF2):c.5038-14C>T rs200268388 0.00009
NM_181882.3(PRX):c.3673G>A (p.Val1225Met) rs140880177 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_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956 0.00006
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_001370298.3(FGD4):c.*4988G>A rs540366205 0.00003
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_001370298.3(FGD4):c.*1068A>G rs537833755 0.00002
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_018972.4(GDAP1):c.102C>G (p.Ser34=) rs7828201 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
NC_000008.11:g.74350373_74350374del rs577136201
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001370298.3(FGD4):c.*1954A>G rs1239829
NM_001370298.3(FGD4):c.*2537C>A rs115173894
NM_001370298.3(FGD4):c.*2928_*2931del rs549931906
NM_001370298.3(FGD4):c.*3130G>A rs73087441
NM_001370298.3(FGD4):c.*3130G>T rs73087441
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_002972.4(SBF1):c.1056G>A (p.Pro352=) rs145862488
NM_002972.4(SBF1):c.1968+40C>A rs9617014
NM_002972.4(SBF1):c.2840-43C>G rs2073280
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_006096.4(NDRG1):c.-120C>T rs11575971
NM_006096.4(NDRG1):c.327-33C>T rs2233327
NM_006096.4(NDRG1):c.327-48C>G rs2233326
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.446+32dup rs11459279
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.*987T>C rs57807625
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_018972.4(GDAP1):c.102= (p.Ser34=)
NM_024577.4(SH3TC2):c.*10614G>A rs114217114
NM_024577.4(SH3TC2):c.*17036C>G rs75086059
NM_024577.4(SH3TC2):c.*19406A>T rs72835351
NM_024577.4(SH3TC2):c.*19564dup rs5872105
NM_024577.4(SH3TC2):c.*3246A>C rs73795732
NM_024577.4(SH3TC2):c.*6392C>T rs114817736
NM_024577.4(SH3TC2):c.*6510G>A rs116056843
NM_024577.4(SH3TC2):c.*7451C>T rs114534145
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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