ClinVar Miner

List of variants in gene LOC126807526, MATR3 studied for Amyotrophic lateral sclerosis type 21

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_018834.6(MATR3):c.1866C>T (p.Thr622=) rs539542619 0.00005
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.2135A>G (p.Lys712Arg) rs750375963 0.00003
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.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.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.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.1904G>A (p.Gly635Asp) rs1755638457
NM_018834.6(MATR3):c.1908G>A (p.Glu636=)
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.1954C>T (p.Leu652Phe) rs886059991
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

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