ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis 21 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 93
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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.1132G>A (p.Ala378Thr) rs201075828
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.1347C>T (p.Ala449=) rs141986556
NM_018834.6(MATR3):c.15C>T (p.Phe5=) rs184609870
NM_018834.6(MATR3):c.1602+6A>G rs80036770
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811
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.2114G>T (p.Ser705Ile) rs201970174
NM_018834.6(MATR3):c.2191T>C (p.Leu731=) rs149714542
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro)
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504
NM_018834.6(MATR3):c.2271T>C (p.Asp757=) rs753870064
NM_018834.6(MATR3):c.2283C>T (p.Asn761=) rs189752689
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
NM_018834.6(MATR3):c.2360A>G (p.Asn787Ser) rs148402819
NM_018834.6(MATR3):c.2494-14C>A rs779597861
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.2543A>G (p.Ter848=) rs200664940
NM_018834.6(MATR3):c.291A>G (p.Leu97=) rs147239107
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
NM_018834.6(MATR3):c.69G>A (p.Ala23=)
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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