ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis 21

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ClinVar version:
Total variants: 183
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HGVS dbSNP
NM_018834.6(MATR3):c.*1076T>C rs2015602
NM_018834.6(MATR3):c.*1087G>C rs116660718
NM_018834.6(MATR3):c.*1111T>C rs772678059
NM_018834.6(MATR3):c.*1143G>A
NM_018834.6(MATR3):c.*1239A>G rs746298588
NM_018834.6(MATR3):c.*1259G>C rs62381613
NM_018834.6(MATR3):c.*1278T>C rs116341961
NM_018834.6(MATR3):c.*1288T>G rs10515507
NM_018834.6(MATR3):c.*138T>C
NM_018834.6(MATR3):c.*1394G>A rs572983701
NM_018834.6(MATR3):c.*1425C>G rs145516036
NM_018834.6(MATR3):c.*1482A>T rs79616595
NM_018834.6(MATR3):c.*1535A>G
NM_018834.6(MATR3):c.*1633T>C rs886059998
NM_018834.6(MATR3):c.*1757T>C rs191196444
NM_018834.6(MATR3):c.*1767C>T rs181125183
NM_018834.6(MATR3):c.*177A>G rs13698
NM_018834.6(MATR3):c.*1821T>G rs886060000
NM_018834.6(MATR3):c.*1891T>G rs886060001
NM_018834.6(MATR3):c.*1999G>T rs886060002
NM_018834.6(MATR3):c.*2054T>A
NM_018834.6(MATR3):c.*2077A>C rs886060003
NM_018834.6(MATR3):c.*2098A>G
NM_018834.6(MATR3):c.*2142G>A
NM_018834.6(MATR3):c.*2170T>G
NM_018834.6(MATR3):c.*2171C>T rs886060004
NM_018834.6(MATR3):c.*2174C>T rs775200100
NM_018834.6(MATR3):c.*2194T>A rs760576225
NM_018834.6(MATR3):c.*2200C>T rs770043950
NM_018834.6(MATR3):c.*2222G>T rs886060005
NM_018834.6(MATR3):c.*2241A>G rs886060006
NM_018834.6(MATR3):c.*262A>G
NM_018834.6(MATR3):c.*275C>T rs187985845
NM_018834.6(MATR3):c.*305A>C rs563125595
NM_018834.6(MATR3):c.*313A>G rs180806333
NM_018834.6(MATR3):c.*406A>G rs185734839
NM_018834.6(MATR3):c.*413A>T rs886059995
NM_018834.6(MATR3):c.*441C>G
NM_018834.6(MATR3):c.*487C>T
NM_018834.6(MATR3):c.*493T>C
NM_018834.6(MATR3):c.*496C>T rs140707719
NM_018834.6(MATR3):c.*587A>G rs535027907
NM_018834.6(MATR3):c.*60A>G rs886059993
NM_018834.6(MATR3):c.*640A>G rs145836548
NM_018834.6(MATR3):c.*672G>A rs7305
NM_018834.6(MATR3):c.*708T>C rs14109
NM_018834.6(MATR3):c.*747G>C rs181792838
NM_018834.6(MATR3):c.*769G>A rs561705958
NM_018834.6(MATR3):c.*770A>G rs886059996
NM_018834.6(MATR3):c.*857C>T
NM_018834.6(MATR3):c.*929G>A rs886059997
NM_018834.6(MATR3):c.*97C>G rs769044248
NM_018834.6(MATR3):c.-124T>C rs886059987
NM_018834.6(MATR3):c.-139G>A rs886059986
NM_018834.6(MATR3):c.-43T>A rs12153162
NM_018834.6(MATR3):c.-56G>A rs59033177
NM_018834.6(MATR3):c.-5C>G rs375381025
NM_018834.6(MATR3):c.1010A>G (p.His337Arg) rs553687055
NM_018834.6(MATR3):c.1017-4C>T
NM_018834.6(MATR3):c.102G>A (p.Gln34=)
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
NM_018834.6(MATR3):c.1116A>G (p.Pro372=) rs375938101
NM_018834.6(MATR3):c.1129+7A>G
NM_018834.6(MATR3):c.1129+9A>G rs372039740
NM_018834.6(MATR3):c.1130-4A>G
NM_018834.6(MATR3):c.1130-5T>A rs188905656
NM_018834.6(MATR3):c.1130-9C>T rs760841083
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
NM_018834.6(MATR3):c.1179A>G (p.Arg393=)
NM_018834.6(MATR3):c.1183-5G>A rs369464069
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys)
NM_018834.6(MATR3):c.1263A>G (p.Pro421=) rs1581248568
NM_018834.6(MATR3):c.1347C>T (p.Ala449=) rs141986556
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918
NM_018834.6(MATR3):c.1368C>T (p.Thr456=) rs200027384
NM_018834.6(MATR3):c.1377G>A (p.Ala459=) rs147356202
NM_018834.6(MATR3):c.1401A>G (p.Arg467=) rs774463869
NM_018834.6(MATR3):c.1434+10del
NM_018834.6(MATR3):c.1435-10T>C rs772340385
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
NM_018834.6(MATR3):c.1512G>A (p.Pro504=)
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn) rs1581251198
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn) rs1033118784
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870
NM_018834.6(MATR3):c.1602+6A>G rs80036770
NM_018834.6(MATR3):c.1603-7T>C
NM_018834.6(MATR3):c.1603-9C>A
NM_018834.6(MATR3):c.1603-9_1603-8del rs1581255414
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile)
NM_018834.6(MATR3):c.1689T>C (p.Cys563=)
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1778+3A>G rs568895329
NM_018834.6(MATR3):c.1778+5T>C
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301
NM_018834.6(MATR3):c.1866C>T (p.Thr622=) rs539542619
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811
NM_018834.6(MATR3):c.1896T>C (p.Gly632=) rs202208841
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)
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.1917A>G (p.Thr639=)
NM_018834.6(MATR3):c.1938G>A (p.Gln646=) rs755732018
NM_018834.6(MATR3):c.1947T>C (p.Asn649=) rs777432521
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
NM_018834.6(MATR3):c.1953T>C (p.Leu651=) rs770765421
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe) rs886059991
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415
NM_018834.6(MATR3):c.2038G>C (p.Asp680His)
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr)
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn)
NM_018834.6(MATR3):c.2148+8_2148+11del rs745750214
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser) rs1468138513
NM_018834.6(MATR3):c.2181C>T (p.Asn727=)
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly) rs538917496
NM_018834.6(MATR3):c.2220C>T (p.Asn740=) rs1204915381
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
NM_018834.6(MATR3):c.2232T>G (p.Gly744=) rs1581261752
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro)
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401
NM_018834.6(MATR3):c.2238A>G (p.Glu746=)
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del)
NM_018834.6(MATR3):c.2265C>T (p.Asn755=)
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn)
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819
NM_018834.6(MATR3):c.2372-3dup rs1561945483
NM_018834.6(MATR3):c.2454T>C (p.Asn818=)
NM_018834.6(MATR3):c.2460T>C (p.His820=) rs1271177846
NM_018834.6(MATR3):c.2494-14C>A rs779597861
NM_018834.6(MATR3):c.2494-6T>A rs376395410
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929
NM_018834.6(MATR3):c.2521C>T (p.Arg841Cys) rs781050726
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364
NM_018834.6(MATR3):c.2538A>G (p.Glu846=) rs747688305
NM_018834.6(MATR3):c.2543A>G (p.Ter848=) rs200664940
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.265A>G (p.Ile89Val) rs528548235
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn)
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys) rs1327023414
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser) rs745440760
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018834.6(MATR3):c.493_495del (p.Ala165del)
NM_018834.6(MATR3):c.507A>G (p.Pro169=) rs1336473659
NM_018834.6(MATR3):c.531T>C (p.Asp177=)
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399
NM_018834.6(MATR3):c.628_630del (p.Glu210del)
NM_018834.6(MATR3):c.670T>C (p.Leu224=)
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)
NM_018834.6(MATR3):c.69G>A (p.Ala23=)
NM_018834.6(MATR3):c.732T>C (p.His244=) rs765914696
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile) rs1554146560
NM_018834.6(MATR3):c.813C>T (p.Gly271=)
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu)
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)
NM_199189.2(MATR3):c.-247C>T rs141402332
NM_199189.2(MATR3):c.-422C>T
NM_199189.2(MATR3):c.-563T>C
NM_199189.2(MATR3):c.-610C>G rs11242456
NM_199189.2(MATR3):c.-643A>G rs765907489
NM_199189.2(MATR3):c.-649C>T rs779721416

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