ClinVar Miner

Variants with conflicting interpretations studied for Charcot-Marie-Tooth disease, type 2

Coded as:
Minimum review status of the submission for Charcot-Marie-Tooth disease, type 2: Y axis collection method of the submission for Charcot-Marie-Tooth disease, type 2:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
561 517 5 187 130 2 37 334

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Charcot-Marie-Tooth disease, type 2 pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 3 18 5 0 0 0 0
likely pathogenic 6 0 3 0 0 0 0
uncertain significance 8 18 0 69 31 0 0
likely benign 1 2 58 0 134 0 1
benign 2 0 18 84 2 1 0

Condition to condition summary #

Total conditions: 63
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 110 0 122 63 0 1 181
not provided 0 169 2 51 57 0 14 115
Charcot-Marie-Tooth disease, type 2 1309 27 0 55 21 0 0 76
Charcot-Marie-Tooth disease, axonal, type 2O 0 6 0 14 28 0 0 42
History of neurodevelopmental disorder 0 1 0 20 15 0 0 35
Neuroblastoma 0 129 0 17 4 0 0 21
Pheochromocytoma 0 129 0 17 4 0 0 21
Charcot-Marie-Tooth disease type 2C 0 16 0 16 1 0 0 17
Primary dilated cardiomyopathy 0 9 0 9 2 0 4 15
Cardiovascular phenotype 0 28 0 11 1 0 1 13
Hereditary motor and sensory neuropathy 0 59 0 8 4 0 0 12
Charcot-Marie-Tooth disease type 2P 0 9 0 6 5 0 0 11
Dilated cardiomyopathy 1A 0 7 2 5 1 0 2 10
Distal spinal muscular atrophy 0 42 0 7 3 0 0 10
Peripheral axonal neuropathy 0 42 0 7 3 0 0 10
Cardiomyopathy 0 29 0 6 2 0 0 8
Congenital generalized lipodystrophy 0 0 0 3 4 0 0 7
Neurologic Disorders/Seipinopathy 0 0 0 3 4 0 0 7
Emery-Dreifuss muscular dystrophy 0 26 0 6 0 0 0 6
Hutchinson-Gilford syndrome 0 25 0 5 0 0 1 6
Mandibuloacral dysplasia 0 25 0 5 0 0 1 6
Congenital muscular dystrophy, LMNA-related 0 28 0 5 0 0 0 5
Dilated Cardiomyopathy, Dominant 0 25 0 5 0 0 0 5
Familial partial lipodystrophy 0 25 0 5 0 0 0 5
Lethal tight skin contracture syndrome 0 25 0 5 0 0 0 5
Limb-Girdle Muscular Dystrophy, Recessive 0 25 0 5 0 0 0 5
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 25 0 5 0 0 0 5
Charcot-Marie-Tooth disease, type 2A2A 0 10 0 3 0 0 1 4
Charcot-Marie-Tooth disease, type 2L 0 1 0 4 0 0 0 4
Charcot-Marie-Tooth disease, type 2N 0 3 0 4 0 0 0 4
Charcot-Marie-Tooth disease 0 4 0 0 0 0 3 3
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 0 0 2 0 0 1 3
Charcot-Marie-Tooth disease, axonal, type 2b 0 0 0 3 0 0 0 3
Familial partial lipodystrophy 2 0 4 0 1 0 0 2 3
Monogenic diabetes 0 3 0 1 2 0 0 3
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 0 6 0 1 0 0 1 2
Mandibuloacral dysplasia with type A lipodystrophy, atypical 0 1 0 0 0 0 2 2
Muscular dystrophy 0 4 0 0 0 0 2 2
Adult proximal spinal muscular atrophy, autosomal dominant 0 0 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2B1 0 1 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2B2 0 1 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2D 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2F 0 1 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type 2A2A; Hereditary motor and sensory neuropathy with optic atrophy; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 0 2 0 1 0 0 0 1
Congenital muscular dystrophy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 2 0 0 0 0 1 1
Distal hereditary motor neuronopathy 0 34 0 0 1 0 0 1
Distal hereditary motor neuronopathy type 2B 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 29 0 1 0 0 0 0 1 1
Familial dilated cardiomyopathy 0 0 0 0 0 0 1 1
Insulin resistance syndrome, type A 0 0 0 0 1 0 0 1
LMNA-Related Disorders 0 0 0 0 0 0 1 1
Left ventricular noncompaction 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy 0 1 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 1B 0 2 0 1 0 0 0 1
MFN2-Related Disorders 0 0 0 1 0 0 0 1
Neuroblastoma 1 0 0 0 0 0 1 0 1
Partial lipodystrophy, Dunnigan 0 1 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Skeletal dysplasia; Neuromuscular Diseases 0 0 0 0 0 0 1 1
Sodium serum level quantitative trait locus 1 0 0 0 0 0 1 0 1
Spastic paraplegia 17 0 1 0 1 0 0 0 1
Variant of unknown significance 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 334
Download table as spreadsheet
HGVS dbSNP
NM_001127660.1(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_001127660.1(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_001282625.1(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_001376.4(DYNC1H1):c.-13C>G rs537857759
NM_001376.4(DYNC1H1):c.-5A>G rs17511858
NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.4(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.4(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.4(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.4(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.4(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.4(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.4(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.4(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.4(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.4(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.4(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.4(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.4(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.4(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377
NM_001376.4(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.4(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.4(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.4(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.4(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.4(DYNC1H1):c.345-10T>G rs202110844
NM_001376.4(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.4(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.4(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.4(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.4(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.4(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304
NM_001376.4(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.4(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.4(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.4(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.4(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.4(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.4(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.4(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.4(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001540.4(HSPB1):c.*11C>T rs1058872
NM_001540.4(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.4(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001605.2(AARS):c.1044G>C (p.Thr348=) rs181264712
NM_001605.2(AARS):c.1332G>A (p.Glu444=) rs150442667
NM_001605.2(AARS):c.1404C>T (p.Tyr468=) rs117598688
NM_001605.2(AARS):c.1410C>T (p.Ile470=) rs79785372
NM_001605.2(AARS):c.1428G>C (p.Arg476=) rs80257731
NM_001605.2(AARS):c.1481G>T (p.Ser494Ile) rs771059047
NM_001605.2(AARS):c.1493-7T>C rs376087556
NM_001605.2(AARS):c.1632C>T (p.Asp544=) rs149425243
NM_001605.2(AARS):c.1672-4T>A rs187509039
NM_001605.2(AARS):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS):c.1737C>T (p.Ile579=) rs144323646
NM_001605.2(AARS):c.1824G>A (p.Thr608=) rs199644417
NM_001605.2(AARS):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS):c.2217C>T (p.Ile739=) rs770980206
NM_001605.2(AARS):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.2(AARS):c.2459A>G (p.Lys820Arg) rs147319762
NM_001605.2(AARS):c.2521-3C>T rs200586605
NM_001605.2(AARS):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS):c.2700G>A (p.Thr900=) rs140814462
NM_001605.2(AARS):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS):c.561C>T (p.Cys187=) rs78523270
NM_001605.2(AARS):c.600C>T (p.Ala200=) rs150080663
NM_001605.2(AARS):c.64G>A (p.Glu22Lys) rs151091410
NM_001605.2(AARS):c.671+3A>G rs74024185
NM_001605.2(AARS):c.700C>T (p.Pro234Ser) rs141840552
NM_001605.2(AARS):c.741G>A (p.Leu247=) rs148075561
NM_001605.2(AARS):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS):c.904G>A (p.Ala302Thr) rs576221121
NM_002047.2(GARS):c.302G>A (p.Arg101His) rs200887429
NM_002047.2(GARS):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.2(GARS):c.882-15T>G rs199741850
NM_002047.3(GARS):c.1031+14T>G rs189589556
NM_002047.3(GARS):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.3(GARS):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.3(GARS):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.3(GARS):c.1420C>A (p.Arg474=) rs113958280
NM_002047.3(GARS):c.1716G>A (p.Pro572=) rs370608239
NM_002047.3(GARS):c.1761G>A (p.Thr587=) rs3886641
NM_002047.3(GARS):c.1962C>T (p.Ile654=) rs201927627
NM_002047.3(GARS):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.3(GARS):c.270C>T (p.Asp90=) rs369898799
NM_002047.3(GARS):c.408A>G (p.Gln136=) rs200279483
NM_002047.3(GARS):c.51G>A (p.Leu17=) rs202117737
NM_002047.3(GARS):c.699C>T (p.Val233=) rs187937286
NM_002047.3(GARS):c.747T>C (p.Tyr249=) rs7808770
NM_002047.3(GARS):c.764C>T (p.Ala255Val) rs765478968
NM_002047.3(GARS):c.765G>A (p.Ala255=) rs201447520
NM_002047.3(GARS):c.803C>T (p.Thr268Ile) rs2230310
NM_004637.5(RAB7A):c.-18A>G rs886057941
NM_004637.5(RAB7A):c.-29G>T rs112000804
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005572.3(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) rs58013325
NM_005572.3(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005572.3(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_005572.3(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.673C>T (p.Arg225Ter) rs60682848
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005572.3(LMNA):c.936+12C>T rs199881992
NM_014365.2(HSPB8):c.*869_*871dupTAA rs60924821
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1269G>A (p.Thr423=) rs145994616
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.175+9G>A rs373340717
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.725A>G (p.His242Arg) rs863224065
NM_014874.3(MFN2):c.72G>T (p.Val24=) rs138454088
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.818T>G (p.Val273Gly) rs1458700065
NM_014874.3(MFN2):c.828_830dupGCA (p.Gln276_His277insGln) rs1553143791
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) rs145266399
NM_015074.3(KIF1B):c.184-6_184-5delTT rs138324955
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) rs140015591
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) rs121908162
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) rs146436697
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) rs11121552
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dupA rs139613776
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_030973.3(MED25):c.135-6T>G rs199743509
NM_030973.3(MED25):c.1377C>T (p.Thr459=) rs374928221
NM_030973.3(MED25):c.165G>A (p.Thr55=) rs77400039
NM_030973.3(MED25):c.1675-7C>T rs79635160
NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) rs193291405
NM_030973.3(MED25):c.1794C>T (p.Ala598=) rs185100172
NM_030973.3(MED25):c.2088G>A (p.Leu696=) rs371157406
NM_030973.3(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.3(MED25):c.354C>T (p.Leu118=) rs145574885
NM_030973.3(MED25):c.396C>T (p.Arg132=) rs142353864
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.1175G>A (p.Arg392His) rs149466797
NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) rs149412531
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) rs369806785
NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) rs10776
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.669C>T (p.Leu223=) rs370926100
NM_032667.6(BSCL2):c.813+4G>T rs367731146
NM_032667.6(BSCL2):c.839C>T (p.Ser280Phe) rs140676897
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_138361.5(LRSAM1):c.-458A>G rs760403428
NM_138361.5(LRSAM1):c.1011C>T (p.Ser337=) rs886063456
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_170707.3(LMNA):c.1003delC (p.Arg335Glyfs) rs1553265660
NM_170707.3(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.3(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.3(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.3(LMNA):c.1160T>C (p.Leu387Pro) rs879253934
NM_170707.3(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.3(LMNA):c.122G>T (p.Arg41Leu) rs1060502215
NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.3(LMNA):c.1299C>T (p.His433=) rs61217436
NM_170707.3(LMNA):c.12G>A (p.Pro4=) rs369823958
NM_170707.3(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.3(LMNA):c.1314G>A (p.Gly438=) rs774817302
NM_170707.3(LMNA):c.1318G>A (p.Val440Met) rs121912493
NM_170707.3(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.3(LMNA):c.1381-6C>T rs371635492
NM_170707.3(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.3(LMNA):c.1436delT (p.Leu479Argfs) rs1553266024
NM_170707.3(LMNA):c.1488+8G>A rs762836610
NM_170707.3(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.3(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.3(LMNA):c.1567G>A (p.Gly523Arg) rs201583907
NM_170707.3(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.3(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.3(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.3(LMNA):c.1718C>T (p.Ser573Leu) rs60890628
NM_170707.3(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.3(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.3(LMNA):c.1773C>T (p.Cys591=) rs397517897
NM_170707.3(LMNA):c.1786G>A (p.Asp596Asn) rs769561386
NM_170707.3(LMNA):c.1804G>A (p.Gly602Ser) rs60662302
NM_170707.3(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.3(LMNA):c.1912G>A (p.Gly638Arg) rs144851946
NM_170707.3(LMNA):c.192C>T (p.Thr64=) rs137969290
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.3(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.3(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.3(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.3(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.3(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.3(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.3(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.3(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.3(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.3(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.3(LMNA):c.643C>T (p.Leu215=) rs397517905
NM_170707.3(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.3(LMNA):c.700C>T (p.Gln234Ter) rs267607573
NM_170707.3(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.3(LMNA):c.789G>A (p.Leu263=) rs148557956
NM_170707.3(LMNA):c.811-13T>A rs80356809
NM_170707.3(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.3(LMNA):c.870G>A (p.Glu290=) rs747275587
NM_170707.3(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_170707.3(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.3(LMNA):c.937-7C>G rs267607681
NM_170707.3(LMNA):c.937-8C>A rs751707982
NM_170707.3(LMNA):c.948G>A (p.Lys316=) rs778421025
NM_170707.3(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.3(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309

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