ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 532
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.*181G>A rs3206306 0.03706
NM_004637.6(RAB7A):c.*183A>G rs774054837 0.03357
NM_018972.4(GDAP1):c.*2298A>G rs4551344 0.00796
NM_018972.4(GDAP1):c.*444A>G rs113377784 0.00620
NM_002047.2(GARS1):c.-85C>A rs777045330 0.00243
NM_001605.3(AARS1):c.*324G>A rs141837805 0.00173
NM_002047.4(GARS1):c.*145C>A rs904772533 0.00152
NM_018972.4(GDAP1):c.*1141C>T rs566147187 0.00141
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001605.2(AARS1):c.-108T>C rs779683414 0.00135
NM_018972.4(GDAP1):c.*331C>T rs1052033443 0.00119
NM_018972.4(GDAP1):c.*931A>G rs532787830 0.00097
NM_004637.6(RAB7A):c.*85A>G rs549333234 0.00085
NM_004637.6(RAB7A):c.*274G>A rs565849348 0.00083
NM_018972.4(GDAP1):c.*751A>G rs544136357 0.00078
NM_018972.4(GDAP1):c.*1430T>A rs538689570 0.00073
NM_001376.5(DYNC1H1):c.*194C>T rs566606862 0.00064
NM_018972.4(GDAP1):c.*2210C>T rs571939530 0.00062
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_001005373.4(LRSAM1):c.*121C>T rs899262383 0.00053
NM_002047.2(GARS1):c.-237A>C rs540431164 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.3(MFN2):c.-359C>G rs997846275 0.00049
NM_014874.3(MFN2):c.-382G>A rs568548916 0.00047
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_014874.4(MFN2):c.*413C>T rs558887681 0.00031
NM_001005373.4(LRSAM1):c.*350C>A rs764119919 0.00030
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_018972.4(GDAP1):c.*873T>C rs573385308 0.00028
NM_014365.2(HSPB8):c.-480C>G rs886049024 0.00026
NM_014874.4(MFN2):c.*1054C>T rs951038336 0.00025
NM_014874.4(MFN2):c.*1539G>A rs557643473 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_018972.4(GDAP1):c.*1415C>T rs558846970 0.00023
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_014365.3(HSPB8):c.-201G>T rs764259720 0.00022
NM_021625.5(TRPV4):c.*99C>T rs552478250 0.00022
NM_001605.3(AARS1):c.*131G>A rs555883502 0.00021
NM_004637.6(RAB7A):c.*402T>A rs950767971 0.00021
NM_014365.3(HSPB8):c.*788C>T rs975396136 0.00021
NM_014874.4(MFN2):c.*1535C>T rs778755558 0.00021
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_021625.5(TRPV4):c.*500C>T rs929739314 0.00020
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=) rs140066362 0.00019
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_014874.4(MFN2):c.*946C>A rs765105334 0.00019
NM_018972.4(GDAP1):c.*18C>T rs147945220 0.00019
NM_001005373.4(LRSAM1):c.-199A>G rs760403428 0.00018
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_014365.3(HSPB8):c.*648A>G rs770364674 0.00016
NM_014874.4(MFN2):c.*1794_*1796del rs540280019 0.00016
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr) rs775444653 0.00015
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295 0.00015
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=) rs771491533 0.00014
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_002047.2(GARS1):c.-80C>T rs886062270 0.00014
NM_014365.3(HSPB8):c.-314T>C rs754447057 0.00014
NM_014874.4(MFN2):c.*1276G>A rs766342161 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_001376.4(DYNC1H1):c.-137C>T rs886050367 0.00013
NM_014874.4(MFN2):c.*256G>A rs557772799 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_014874.4(MFN2):c.*1153C>T rs542684406 0.00011
NM_014874.4(MFN2):c.*36G>A rs377468070 0.00011
NM_001005373.4(LRSAM1):c.620-3C>T rs373015900 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_014874.4(MFN2):c.*813G>A rs771869272 0.00010
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005373.4(LRSAM1):c.*588T>A rs886063461 0.00009
NM_001005373.4(LRSAM1):c.1422+15T>A rs372509526 0.00009
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911 0.00009
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713 0.00009
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499 0.00009
NM_004637.6(RAB7A):c.*1142G>A rs747470481 0.00009
NM_004637.6(RAB7A):c.*989C>G rs1039323764 0.00009
NM_014365.3(HSPB8):c.*123G>A rs987225344 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_018972.4(GDAP1):c.*1183G>A rs756257305 0.00009
NM_018972.4(GDAP1):c.*618C>T rs886063106 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_001005373.4(LRSAM1):c.*370C>T rs370358510 0.00008
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_001365951.3(KIF1B):c.*3644dup rs775451005 0.00007
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001540.5(HSPB1):c.*116C>T rs368381742 0.00007
NM_004637.6(RAB7A):c.*165A>T rs886057942 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005373.4(LRSAM1):c.*238G>A rs886063459 0.00006
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_002047.4(GARS1):c.-36C>T rs531483802 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_004637.6(RAB7A):c.*1029A>G rs776759455 0.00006
NM_014365.2(HSPB8):c.-419A>T rs1011802078 0.00006
NM_014874.3(MFN2):c.-468G>A rs973376897 0.00006
NM_018972.2(GDAP1):c.*2675C>T rs957273627 0.00006
NM_018972.4(GDAP1):c.*1905A>G rs185710169 0.00006
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_021625.5(TRPV4):c.*405G>A rs886048937 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_001005373.4(LRSAM1):c.-189+47C>T rs886063450 0.00005
NM_001365951.3(KIF1B):c.*2032T>A rs190108168 0.00005
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184 0.00005
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_014365.3(HSPB8):c.*803T>C rs886049029 0.00005
NM_014874.3(MFN2):c.-328T>A rs886045217 0.00005
NM_014874.4(MFN2):c.*1295G>A rs763783578 0.00005
NM_018972.4(GDAP1):c.*1301A>G rs779268019 0.00005
NM_018972.4(GDAP1):c.*1416G>A rs575631045 0.00005
NM_021625.5(TRPV4):c.*411A>G rs924343915 0.00005
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643 0.00004
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) rs150118849 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=) rs375547282 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_004637.6(RAB7A):c.*1301A>G rs182528613 0.00004
NM_004637.6(RAB7A):c.*956G>A rs1421148594 0.00004
NM_004637.6(RAB7A):c.-18A>G rs886057941 0.00004
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00004
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_018972.2(GDAP1):c.*2723T>C rs886063119 0.00004
NM_018972.4(GDAP1):c.*1372A>G rs896559706 0.00004
NM_018972.4(GDAP1):c.*860T>C rs554748057 0.00004
NM_021625.5(TRPV4):c.*303G>A rs909596433 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00003
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185 0.00003
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445 0.00003
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566 0.00003
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001605.3(AARS1):c.*169C>G rs554221793 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_004637.6(RAB7A):c.*1344G>A rs763557372 0.00003
NM_014874.4(MFN2):c.*1662T>C rs1020801224 0.00003
NM_014874.4(MFN2):c.*297T>A rs886045224 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_018972.4(GDAP1):c.*1080G>A rs766481914 0.00003
NM_018972.4(GDAP1):c.*1437A>C rs557040712 0.00003
NM_018972.4(GDAP1):c.*1570G>C rs886063114 0.00003
NM_018972.4(GDAP1):c.*644G>T rs913538379 0.00003
NM_018972.4(GDAP1):c.*663T>C rs886063107 0.00003
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) rs750086412 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_001005373.4(LRSAM1):c.*356G>A rs1394418871 0.00002
NM_001005373.4(LRSAM1):c.*597T>G rs751523580 0.00002
NM_001005373.4(LRSAM1):c.-302C>T rs1253485349 0.00002
NM_001005373.4(LRSAM1):c.1159+13A>T rs756667241 0.00002
NM_001376.5(DYNC1H1):c.*108G>A rs886050378 0.00002
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040 0.00002
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882 0.00002
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054 0.00002
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) rs149028205 0.00002
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) rs755543897 0.00002
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497 0.00002
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val) rs1412108587 0.00002
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg) rs1422291997 0.00002
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) rs200885538 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) rs374478964 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_004637.6(RAB7A):c.*1343C>T rs576597041 0.00002
NM_004637.6(RAB7A):c.*702T>G rs886057947 0.00002
NM_018972.4(GDAP1):c.*1030T>C rs576789317 0.00002
NM_018972.4(GDAP1):c.*697A>G rs766828605 0.00002
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975 0.00002
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.651G>A (p.Ala217=) rs371280831 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001005373.4(LRSAM1):c.-127C>A rs1834340914 0.00001
NM_001005373.4(LRSAM1):c.-188-121A>G rs886063453 0.00001
NM_001005373.4(LRSAM1):c.-189+127A>G rs1434818116 0.00001
NM_001005373.4(LRSAM1):c.-78C>T rs886063454 0.00001
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457 0.00001
NM_001005373.4(LRSAM1):c.1699-3C>T rs756218616 0.00001
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser) rs1203313855 0.00001
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His) rs1392820291 0.00001
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val) rs542077582 0.00001
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400 0.00001
NM_001365951.3(KIF1B):c.*1104C>T rs886044995 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377 0.00001
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=) rs1024563256 0.00001
NM_001376.5(DYNC1H1):c.2719-15T>C rs748772899 0.00001
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996 0.00001
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182 0.00001
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) rs2048183675 0.00001
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) rs1184080545 0.00001
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001605.3(AARS1):c.*32T>C rs771868425 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) rs1468385890 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) rs764124393 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys) rs1223915249 0.00001
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr) rs886052253 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly) rs769239545 0.00001
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) rs886052256 0.00001
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr) rs750331983 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_002047.2(GARS1):c.-166T>G rs1008764831 0.00001
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273 0.00001
NM_002047.4(GARS1):c.1188T>C (p.Val396=) rs779184435 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_004637.6(RAB7A):c.*831A>G rs1432428820 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_014365.3(HSPB8):c.*67T>G rs886049026 0.00001
NM_014365.3(HSPB8):c.-172G>C rs886049025 0.00001
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) rs1011669872 0.00001
NM_014874.4(MFN2):c.*1222G>A rs531732785 0.00001
NM_014874.4(MFN2):c.*131G>A rs1639706861 0.00001
NM_014874.4(MFN2):c.*1902C>T rs933126234 0.00001
NM_014874.4(MFN2):c.*870C>T rs886045227 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_018972.2(GDAP1):c.*2542A>G rs909463010 0.00001
NM_018972.2(GDAP1):c.*2702T>C rs1809669202 0.00001
NM_018972.4(GDAP1):c.*1289T>C rs1439179536 0.00001
NM_018972.4(GDAP1):c.*1527G>A rs886063113 0.00001
NM_018972.4(GDAP1):c.*1923C>T rs886063116 0.00001
NM_018972.4(GDAP1):c.*195T>C rs1201095819 0.00001
NM_018972.4(GDAP1):c.*1968C>T rs567166158 0.00001
NM_018972.4(GDAP1):c.*1976C>T rs527937918 0.00001
NM_018972.4(GDAP1):c.*2125A>C rs1231558825 0.00001
NM_018972.4(GDAP1):c.*926C>A rs1487448268 0.00001
NM_018972.4(GDAP1):c.*961G>C rs886063110 0.00001
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 0.00001
NM_021625.5(TRPV4):c.*212G>A rs886048938 0.00001
NM_021625.5(TRPV4):c.*51G>A rs886048939 0.00001
NM_021625.5(TRPV4):c.-59C>T rs1299040866 0.00001
NM_021625.5(TRPV4):c.-74G>A rs886048942 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr) rs775011025 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633 0.00001
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) rs756559560 0.00001
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn) rs769445973 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001005373.4(LRSAM1):c.*392G>T rs1371405396
NM_001005373.4(LRSAM1):c.*501C>T rs886063460
NM_001005373.4(LRSAM1):c.*552A>G rs1836474069
NM_001005373.4(LRSAM1):c.-189+110G>A rs886063451
NM_001005373.4(LRSAM1):c.-189+120_-189+122del rs749626964
NM_001005373.4(LRSAM1):c.-308G>A rs3808832
NM_001005373.4(LRSAM1):c.-35C>T rs989000729
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_001005373.4(LRSAM1):c.1347+6C>T rs1588128875
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=) rs1410005477
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn) rs1351504702
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001365951.3(KIF1B):c.*1363dup rs567435289
NM_001365951.3(KIF1B):c.*249CA[13] rs111663673
NM_001365951.3(KIF1B):c.*249CA[14] rs111663673
NM_001365951.3(KIF1B):c.*249CA[17] rs111663673
NM_001365951.3(KIF1B):c.*249CA[18] rs111663673
NM_001365951.3(KIF1B):c.*249CA[19] rs111663673
NM_001365951.3(KIF1B):c.*281_*282dup rs886044986
NM_001365951.3(KIF1B):c.*281_*286del rs886044990
NM_001365951.3(KIF1B):c.*2978dup rs145348144
NM_001365951.3(KIF1B):c.*454CT[1] rs886044993
NM_001365951.3(KIF1B):c.*4664_*4665insG rs571589510
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975
NM_001376.4(DYNC1H1):c.-122C>T rs566619022
NM_001376.5(DYNC1H1):c.*194C>G rs566606862
NM_001376.5(DYNC1H1):c.*70T>C rs1047475161
NM_001376.5(DYNC1H1):c.-90C>T rs1256118131
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=) rs886050371
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly) rs2048578052
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) rs567247522
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln) rs2048621150
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) rs777166781
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) rs961375016
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val) rs1391196036
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His) rs2048072049
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro) rs2048126886
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=) rs1595609824
NM_001376.5(DYNC1H1):c.5049+15G>A rs975753572
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=) rs2048192586
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=) rs898083162
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr) rs2048317566
NM_001376.5(DYNC1H1):c.8177+12C>T rs367551573
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met) rs2048487270
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.*100_*103del rs537392004
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro) rs926257693
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.60C>T (p.Arg20=) rs1803014628
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.615G>A (p.Lys205=) rs1310856057
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_002047.2(GARS1):c.-180G>C rs919928419
NM_002047.2(GARS1):c.-195A>T rs940014942
NM_002047.2(GARS1):c.-197G>C rs886062269
NM_002047.2(GARS1):c.-59C>T rs886062271
NM_002047.2(GARS1):c.-64C>T rs932663016
NM_002047.2(GARS1):c.-69T>G rs527307703
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_002047.4(GARS1):c.1143G>C (p.Gln381His) rs1782883200
NM_002047.4(GARS1):c.1194+3A>C rs1782884805
NM_002047.4(GARS1):c.1770A>G (p.Glu590=) rs1783175611
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.5(RAB7A):c.-209_-204dup rs770559386
NM_004637.6(RAB7A):c.*1079C>T rs141066124
NM_004637.6(RAB7A):c.*1161C>T rs886057952
NM_004637.6(RAB7A):c.*1219C>T rs1036501286
NM_004637.6(RAB7A):c.*182CA[9] rs139417205
NM_004637.6(RAB7A):c.*317A>G rs1933980298
NM_004637.6(RAB7A):c.*421_*423del rs886057944
NM_004637.6(RAB7A):c.*473G>C rs886057945
NM_004637.6(RAB7A):c.*700C>T rs886057946
NM_004637.6(RAB7A):c.*801dup rs886057948
NM_004637.6(RAB7A):c.*819C>A rs772662283
NM_004637.6(RAB7A):c.*908A>C rs546868558
NM_004637.6(RAB7A):c.*922A>G rs886057949
NM_004637.6(RAB7A):c.*929A>T rs886057950
NM_004637.6(RAB7A):c.*974A>G rs1933994920
NM_004637.6(RAB7A):c.*997T>G rs3755593
NM_004637.6(RAB7A):c.-146G>C rs1044292082
NM_004637.6(RAB7A):c.-154G>A rs886057939
NM_004637.6(RAB7A):c.-61G>A rs2070377358
NM_004637.6(RAB7A):c.-70CTC[2] rs763539443
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) rs1933833236
NM_004637.6(RAB7A):c.54-15T>C rs748552184
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.-522C>G rs981936850
NM_014365.3(HSPB8):c.*330A>T rs1954730443
NM_014365.3(HSPB8):c.*504T>C rs886049027
NM_014365.3(HSPB8):c.*707_*720delinsAAAA rs886049028
NM_014365.3(HSPB8):c.*848TAA[10] rs60924821
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014365.3(HSPB8):c.*860T>C rs1223485106
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.4(MFN2):c.*1068C>T rs886045229
NM_014874.4(MFN2):c.*121A>G rs886045222
NM_014874.4(MFN2):c.*1392A>G rs886045230
NM_014874.4(MFN2):c.*1640del rs35943162
NM_014874.4(MFN2):c.*1640dup rs35943162
NM_014874.4(MFN2):c.*1763G>A rs1639769422
NM_014874.4(MFN2):c.*1797GTT[1] rs140537612
NM_014874.4(MFN2):c.*381C>A rs966318629
NM_014874.4(MFN2):c.*57C>T rs886045221
NM_014874.4(MFN2):c.*610del rs747291228
NM_014874.4(MFN2):c.*864T>C rs886045226
NM_014874.4(MFN2):c.*935G>T rs886045228
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) rs1639333679
NM_014874.4(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.4(MFN2):c.1716+8A>G rs1639390139
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.2211A>G (p.Lys737=) rs1639694970
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_018972.4(GDAP1):c.*1043G>C rs762978513
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1165C>G rs1809586700
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2298A>C rs4551344
NM_018972.4(GDAP1):c.*451C>T rs1809544520
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) rs1808871593
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) rs121908115
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) rs1809508613
NM_021625.4(TRPV4):c.-92G>T rs906360195
NM_021625.5(TRPV4):c.*145C>T rs1889461810
NM_021625.5(TRPV4):c.*227A>G rs1889456342
NM_021625.5(TRPV4):c.*2G>A rs1889473862
NM_021625.5(TRPV4):c.*421G>A rs1010774371
NM_021625.5(TRPV4):c.*83C>G rs1360617913
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
NM_021625.5(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.195A>G (p.Pro65=) rs1891742510
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys) rs1889714023
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) rs34071623
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) rs1890720450
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.