ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease by Genome-Nilou Lab

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301 0.88426
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535 0.79980
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_007126.5(VCP):c.1360-35A>G rs2258240 0.75740
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_002972.4(SBF1):c.3905-31T>C rs4824117 0.72013
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_022489.4(INF2):c.2310+8del rs3840006 0.58720
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_002972.4(SBF1):c.1431+27G>A rs2076714 0.53065
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=) rs1053744 0.52056
NM_015271.5(TRIM2):c.1032G>A (p.Thr344=) rs893805 0.51938
NM_002047.4(GARS1):c.659-43C>A rs1558064 0.49314
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_021629.4(GNB4):c.117T>C (p.Ser39=) rs1362650 0.46787
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) rs2651369 0.45332
NM_002677.5(PMP2):c.*12T>C rs6473276 0.44966
NM_001136472.2(LITAF):c.220+42C>T rs3743582 0.44408
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_006096.4(NDRG1):c.538-132G>C rs2272650 0.41873
NM_001303256.3(MORC2):c.96C>T (p.Ala32=) rs737924 0.40756
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=) rs3747151 0.39939
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
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_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_006096.4(NDRG1):c.699-51A>C rs2233335 0.31793
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_002972.4(SBF1):c.3284-31C>T rs2073278 0.30661
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001303256.3(MORC2):c.378C>G (p.Thr126=) rs2072132 0.29850
NM_006096.4(NDRG1):c.450+61A>G rs2272651 0.29847
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
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_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_006096.4(NDRG1):c.855+148T>C rs2233339 0.26454
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23408
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_015271.5(TRIM2):c.215+39G>A rs1470104 0.20908
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) rs5771001 0.20075
NM_002972.4(SBF1):c.3688+31C>T rs2281439 0.19323
NM_001376.5(DYNC1H1):c.1462-41G>A rs2983422 0.19200
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_007126.5(VCP):c.129+47G>A rs10972300 0.17835
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_002972.4(SBF1):c.4087-25C>T rs2076713 0.14256
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_000701.8(ATP1A1):c.741C>A (p.Thr247=) rs12079419 0.12034
NM_000701.8(ATP1A1):c.637-17C>T rs12079355 0.11276
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_000701.8(ATP1A1):c.3043+38T>C rs10924083 0.08938
NM_000701.8(ATP1A1):c.2952-37C>T rs12136995 0.08895
NM_000701.8(ATP1A1):c.3043+8T>C rs12139437 0.08884
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=) rs58335489 0.08274
NM_000701.8(ATP1A1):c.1024-64G>A rs41464748 0.07904
NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=) rs11540956 0.07885
NM_002972.4(SBF1):c.2106G>A (p.Thr702=) rs5771037 0.06512
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204 0.05416
NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=) rs9567 0.04948
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_001303256.3(MORC2):c.699-20T>C rs78973434 0.01322
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971 0.00436
NM_001303256.3(MORC2):c.1737+4C>T rs5997814 0.00421
NM_001303256.3(MORC2):c.158-12del rs66613527 0.00343
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185 0.00339
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975 0.00227
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00115
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491 0.00078
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873 0.00061
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) rs144039896 0.00060
NM_001303256.3(MORC2):c.2193+15C>T rs201301518 0.00055
NM_001303256.3(MORC2):c.1499-9T>C rs201213165 0.00047
NM_001303256.3(MORC2):c.3030+9G>C rs200086094 0.00022
NM_025137.4(SPG11):c.732C>T (p.Asp244=) rs745572647 0.00002
NM_001303256.3(MORC2):c.894A>G (p.Val298=) rs562612569 0.00001
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000701.8(ATP1A1):c.1024-100T>G rs56016633
NM_000701.8(ATP1A1):c.1223-32G>A rs12130872
NM_000701.8(ATP1A1):c.1974-14del rs77990511
NM_000701.8(ATP1A1):c.755-77A>T rs12134095
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_002972.4(SBF1):c.1968+40C>A rs9617014
NM_002972.4(SBF1):c.2840-43C>G rs2073280
NM_006096.4(NDRG1):c.327-33C>T rs2233327
NM_006096.4(NDRG1):c.327-48C>G rs2233326
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_015271.5(TRIM2):c.405T>G (p.Thr135=) rs2289409
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_025137.4(SPG11):c.2445-20del rs374899647

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