ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 21 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 374
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.1602+6A>G rs80036770 0.01434
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556 0.00120
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819 0.00083
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107 0.00034
NM_018834.6(MATR3):c.1130-5T>A rs188905656 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_018834.6(MATR3):c.2494-6T>A rs376395410 0.00029
NM_018834.6(MATR3):c.1183-5G>A rs369464069 0.00028
NM_018834.6(MATR3):c.1130-4A>G rs371701183 0.00027
NM_018834.6(MATR3):c.1435-20G>A rs75623350 0.00027
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726 0.00022
NM_018834.6(MATR3):c.2284G>A (p.Ala762Thr) rs148487997 0.00019
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_018834.6(MATR3):c.1377G>A (p.Ala459=) rs147356202 0.00014
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689 0.00014
NM_018834.6(MATR3):c.265A>G (p.Ile89Val) rs528548235 0.00010
NM_018834.6(MATR3):c.1116A>G (p.Pro372=) rs375938101 0.00009
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser) rs144637575 0.00009
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940 0.00009
NM_199189.3(MATR3):c.-339+2T>A rs539017488 0.00009
NM_018834.6(MATR3):c.1435-14_1435-11del rs754942776 0.00008
NM_018834.6(MATR3):c.1129+9A>G rs372039740 0.00006
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val) rs766453846 0.00006
NM_018834.6(MATR3):c.1866C>T (p.Thr622=) rs539542619 0.00005
NM_018834.6(MATR3):c.1368C>T (p.Thr456=) rs200027384 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_018834.6(MATR3):c.1778+5T>C rs377212154 0.00004
NM_018834.6(MATR3):c.1896T>C (p.Gly632=) rs202208841 0.00004
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala) rs765603068 0.00004
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542 0.00004
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn) rs774070119 0.00004
NM_018834.6(MATR3):c.2454T>C (p.Asn818=) rs146550337 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_018834.6(MATR3):c.1435-8T>C rs1055412692 0.00003
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg) rs750375963 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_018834.6(MATR3):c.2494-14C>A rs779597861 0.00003
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys) rs768516057 0.00003
NM_018834.6(MATR3):c.384T>C (p.Tyr128=) rs776371632 0.00003
NM_018834.6(MATR3):c.732T>C (p.His244=) rs765914696 0.00003
NM_018834.6(MATR3):c.975-15C>T rs370659966 0.00003
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala) rs748098389 0.00002
NM_018834.6(MATR3):c.1479G>A (p.Glu493=) rs751178653 0.00002
NM_018834.6(MATR3):c.1735-11T>C rs200942842 0.00002
NM_018834.6(MATR3):c.1917A>G (p.Thr639=) rs147164878 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr) rs1314919388 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr) rs774158046 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_018834.6(MATR3):c.531T>C (p.Asp177=) rs367924183 0.00002
NM_018834.6(MATR3):c.620G>A (p.Arg207His) rs749335257 0.00002
NM_018834.6(MATR3):c.657T>C (p.Tyr219=) rs775810771 0.00002
NM_018834.6(MATR3):c.670T>C (p.Leu224=) rs761066793 0.00002
NM_018834.6(MATR3):c.69G>A (p.Ala23=) rs750693851 0.00002
NM_018834.6(MATR3):c.1130-9C>T rs760841083 0.00001
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser) rs1755320528 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr) rs779612686 0.00001
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918 0.00001
NM_018834.6(MATR3):c.1401A>G (p.Arg467=) rs774463869 0.00001
NM_018834.6(MATR3):c.1404T>C (p.Val468=) rs1429293984 0.00001
NM_018834.6(MATR3):c.1435-10T>C rs772340385 0.00001
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu) rs777025841 0.00001
NM_018834.6(MATR3):c.1512G>A (p.Pro504=) rs777712375 0.00001
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870 0.00001
NM_018834.6(MATR3):c.1603-9C>A rs188764121 0.00001
NM_018834.6(MATR3):c.1636A>G (p.Met546Val) rs1412628714 0.00001
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile) rs748592981 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del) rs1186297721 0.00001
NM_018834.6(MATR3):c.1938G>A (p.Gln646=) rs755732018 0.00001
NM_018834.6(MATR3):c.1947T>C (p.Asn649=) rs777432521 0.00001
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr) rs1176347654 0.00001
NM_018834.6(MATR3):c.1953T>C (p.Leu651=) rs770765421 0.00001
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val) rs1261252930 0.00001
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu) rs1228960452 0.00001
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu) rs759928245 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser) rs1468138513 0.00001
NM_018834.6(MATR3):c.2181C>T (p.Asn727=) rs772833565 0.00001
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly) rs538917496 0.00001
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser) rs1452954379 0.00001
NM_018834.6(MATR3):c.2238A>G (p.Glu746=) rs747456128 0.00001
NM_018834.6(MATR3):c.2265C>T (p.Asn755=) rs1361987333 0.00001
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064 0.00001
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg) rs765284792 0.00001
NM_018834.6(MATR3):c.2372-3dup rs1561945483 0.00001
NM_018834.6(MATR3):c.2460T>C (p.His820=) rs1271177846 0.00001
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr) rs912142064 0.00001
NM_018834.6(MATR3):c.2538A>G (p.Glu846=) rs747688305 0.00001
NM_018834.6(MATR3):c.256A>G (p.Ile86Val) rs201277902 0.00001
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys) rs1327023414 0.00001
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser) rs745440760 0.00001
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly) rs1255035245 0.00001
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr) rs1433371817 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_018834.6(MATR3):c.507A>G (p.Pro169=) rs1336473659 0.00001
NM_018834.6(MATR3):c.597G>A (p.Val199=) rs1754794221 0.00001
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe) rs200871699 0.00001
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala) rs774478774 0.00001
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn) rs762374587 0.00001
NM_018834.6(MATR3):c.898G>A (p.Val300Ile) rs1307308858 0.00001
NM_018834.6(MATR3):c.960G>T (p.Gln320His) rs773617455 0.00001
NM_018834.6(MATR3):c.974+7G>A rs1443299870 0.00001
NC_000005.9:g.(?_138608441)_(138668366_?)del
NC_000005.9:g.(?_138643105)_(138644036_?)dup
NC_000005.9:g.(?_138643105)_(138665084_?)dup
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
NM_018834.6(MATR3):c.1010A>G (p.His337Arg) rs553687055
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
NM_018834.6(MATR3):c.1016+13T>C
NM_018834.6(MATR3):c.1017-16G>A rs2151984888
NM_018834.6(MATR3):c.1017-4C>T rs1035772952
NM_018834.6(MATR3):c.1017-4dup
NM_018834.6(MATR3):c.102G>A (p.Gln34=) rs747469006
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr) rs1561938220
NM_018834.6(MATR3):c.1129+7A>G rs1477606021
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
NM_018834.6(MATR3):c.1130-14C>G
NM_018834.6(MATR3):c.1130-15T>A
NM_018834.6(MATR3):c.1130-15T>C
NM_018834.6(MATR3):c.1130-18C>A rs1755284160
NM_018834.6(MATR3):c.1130-8C>G
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
NM_018834.6(MATR3):c.1182+11A>G rs774114454
NM_018834.6(MATR3):c.1182+17T>G
NM_018834.6(MATR3):c.1182+4A>C rs2151988816
NM_018834.6(MATR3):c.1183-4A>T
NM_018834.6(MATR3):c.1183-5del
NM_018834.6(MATR3):c.1245A>G (p.Leu415=)
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
NM_018834.6(MATR3):c.1263A>G (p.Pro421=) rs1581248568
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
NM_018834.6(MATR3):c.1284T>C (p.His428=)
NM_018834.6(MATR3):c.1308+18G>A
NM_018834.6(MATR3):c.1308+24_1308+26del
NM_018834.6(MATR3):c.1309-10A>G
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn) rs2151995266
NM_018834.6(MATR3):c.1332A>G (p.Thr444=)
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
NM_018834.6(MATR3):c.1383A>G (p.Val461=)
NM_018834.6(MATR3):c.1398G>A (p.Val466=)
NM_018834.6(MATR3):c.1413C>A (p.Ser471=)
NM_018834.6(MATR3):c.1434+10del rs2151995486
NM_018834.6(MATR3):c.1435-17G>A rs1291025838
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
NM_018834.6(MATR3):c.153C>T (p.Arg51=)
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn) rs1581251198
NM_018834.6(MATR3):c.1596A>G (p.Lys532=)
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn) rs1033118784
NM_018834.6(MATR3):c.1602+10A>G
NM_018834.6(MATR3):c.1602+9C>T
NM_018834.6(MATR3):c.1603-11T>C
NM_018834.6(MATR3):c.1603-11T>G
NM_018834.6(MATR3):c.1603-13_1603-12del
NM_018834.6(MATR3):c.1603-17T>C rs199789148
NM_018834.6(MATR3):c.1603-17T>G
NM_018834.6(MATR3):c.1603-18C>G
NM_018834.6(MATR3):c.1603-18C>T
NM_018834.6(MATR3):c.1603-19T>C
NM_018834.6(MATR3):c.1603-7T>C rs1161987811
NM_018834.6(MATR3):c.1603-7_1603-4del
NM_018834.6(MATR3):c.1603-9_1603-6del
NM_018834.6(MATR3):c.1603-9_1603-8del rs1581255414
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile) rs2152007107
NM_018834.6(MATR3):c.1629A>G (p.Glu543=)
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser) rs2152007192
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
NM_018834.6(MATR3):c.165A>G (p.Leu55=)
NM_018834.6(MATR3):c.1668C>T (p.Ala556=)
NM_018834.6(MATR3):c.1689T>C (p.Cys563=) rs201037038
NM_018834.6(MATR3):c.1716T>C (p.Tyr572=)
NM_018834.6(MATR3):c.1734+10A>G
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1734+19G>A
NM_018834.6(MATR3):c.1734+7A>G
NM_018834.6(MATR3):c.1735-18A>C rs781510247
NM_018834.6(MATR3):c.1735-19C>G
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
NM_018834.6(MATR3):c.1778+17T>C rs776365113
NM_018834.6(MATR3):c.1778+19del rs753454728
NM_018834.6(MATR3):c.1779-19T>G
NM_018834.6(MATR3):c.1779-20GT[2] rs779005896
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
NM_018834.6(MATR3):c.1803C>G (p.Gly601=) rs746452114
NM_018834.6(MATR3):c.1812T>A (p.Ser604=)
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
NM_018834.6(MATR3):c.1839T>C (p.Asp613=)
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg) rs2152009933
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr) rs1357612214
NM_018834.6(MATR3):c.1854T>A (p.Thr618=)
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg) rs2152010076
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
NM_018834.6(MATR3):c.1899A>G (p.Glu633=)
NM_018834.6(MATR3):c.18G>A (p.Gln6=)
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp) rs1755638457
NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
NM_018834.6(MATR3):c.190T>C (p.Leu64=) rs775134951
NM_018834.6(MATR3):c.1912G>C (p.Asp638His) rs1554148872
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala) rs2152010206
NM_018834.6(MATR3):c.1914C>T (p.Asp638=) rs369312174
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser) rs765603068
NM_018834.6(MATR3):c.1920G>A (p.Lys640=)
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
NM_018834.6(MATR3):c.1929G>C (p.Gln643His) rs553655919
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
NM_018834.6(MATR3):c.1972C>T (p.Leu658=) rs745805004
NM_018834.6(MATR3):c.2016C>G (p.Gly672=)
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
NM_018834.6(MATR3):c.2038G>C (p.Asp680His) rs752161415
NM_018834.6(MATR3):c.2046T>A (p.Ala682=)
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr) rs765251685
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
NM_018834.6(MATR3):c.2076A>G (p.Lys692=)
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn) rs2152010949
NM_018834.6(MATR3):c.2148+14C>G
NM_018834.6(MATR3):c.2148+17T>A
NM_018834.6(MATR3):c.2148+3A>G
NM_018834.6(MATR3):c.2148+8_2148+11del rs745750214
NM_018834.6(MATR3):c.2148+9A>G
NM_018834.6(MATR3):c.2149-5T>C
NM_018834.6(MATR3):c.2149-8A>G
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
NM_018834.6(MATR3):c.2160C>T (p.Ile720=)
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
NM_018834.6(MATR3):c.2170G>C (p.Asp724His) rs1452903586
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val) rs1235948155
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys) rs772833565
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
NM_018834.6(MATR3):c.2187A>G (p.Ala729=)
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly) rs762668138
NM_018834.6(MATR3):c.2190G>A (p.Ala730=)
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
NM_018834.6(MATR3):c.2199T>C (p.Asn733=)
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
NM_018834.6(MATR3):c.2220C>T (p.Asn740=) rs1204915381
NM_018834.6(MATR3):c.2223A>G (p.Thr741=)
NM_018834.6(MATR3):c.2232T>G (p.Gly744=) rs1581261752
NM_018834.6(MATR3):c.2235T>C (p.Ala745=)
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del) rs1016579955
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
NM_018834.6(MATR3):c.2301T>C (p.Asp767=) rs748749843
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn) rs1755815403
NM_018834.6(MATR3):c.2313C>T (p.Asp771=)
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser) rs370051410
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
NM_018834.6(MATR3):c.2331T>C (p.Asp777=)
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
NM_018834.6(MATR3):c.2371+10A>G
NM_018834.6(MATR3):c.2371+13T>G rs2152022664
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
NM_018834.6(MATR3):c.2372-4C>T
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
NM_018834.6(MATR3):c.2424C>G (p.Leu808=) rs2152024327
NM_018834.6(MATR3):c.2448A>G (p.Ala816=)
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg) rs2152024424
NM_018834.6(MATR3):c.2493+12T>A
NM_018834.6(MATR3):c.2493+19C>T rs2152024488
NM_018834.6(MATR3):c.2493+3A>G rs2152024439
NM_018834.6(MATR3):c.2494-12_2494-11del rs756391139
NM_018834.6(MATR3):c.2494-14_2494-11del
NM_018834.6(MATR3):c.2494-8_2494-5del
NM_018834.6(MATR3):c.2494-9T>C
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu) rs2152033705
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del) rs1232740498
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn) rs1460343731
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
NM_018834.6(MATR3):c.306T>C (p.Arg102=) rs1397245799
NM_018834.6(MATR3):c.306T>G (p.Arg102=)
NM_018834.6(MATR3):c.334T>C (p.Leu112=)
NM_018834.6(MATR3):c.420A>G (p.Gln140=)
NM_018834.6(MATR3):c.429A>G (p.Leu143=)
NM_018834.6(MATR3):c.439A>C (p.Arg147=)
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser) rs2151960855
NM_018834.6(MATR3):c.459C>G (p.Gly153=)
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018834.6(MATR3):c.462T>C (p.Pro154=)
NM_018834.6(MATR3):c.474T>C (p.Tyr158=)
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe) rs1191529191
NM_018834.6(MATR3):c.493_495del (p.Ala165del) rs760040641
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp) rs138894013
NM_018834.6(MATR3):c.504G>A (p.Glu168=)
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser) rs2151961098
NM_018834.6(MATR3):c.628_630del (p.Glu210del) rs1754795693
NM_018834.6(MATR3):c.63G>C (p.Leu21=)
NM_018834.6(MATR3):c.663T>C (p.Asp221=) rs2151961303
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu) rs2151961434
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
NM_018834.6(MATR3):c.747G>A (p.Glu249=)
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile) rs1554146560
NM_018834.6(MATR3):c.795C>T (p.Leu265=) rs1354833142
NM_018834.6(MATR3):c.813C>T (p.Gly271=) rs1754806535
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
NM_018834.6(MATR3):c.81C>G (p.Gly27=)
NM_018834.6(MATR3):c.832A>G (p.Ile278Val) rs765718462
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu) rs1318047828
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe) rs1754770320
NM_018834.6(MATR3):c.870C>T (p.Pro290=)
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
NM_018834.6(MATR3):c.897A>C (p.Pro299=)
NM_018834.6(MATR3):c.90T>C (p.Ala30=)
NM_018834.6(MATR3):c.912+11_912+15del
NM_018834.6(MATR3):c.924A>G (p.Gln308=)
NM_018834.6(MATR3):c.93T>G (p.Ala31=)
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
NM_018834.6(MATR3):c.966T>C (p.Leu322=)
NM_018834.6(MATR3):c.974+20T>C
NM_018834.6(MATR3):c.975-9T>G
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)

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