ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis 21 by Invitae

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ClinVar version:
Total variants: 105
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HGVS dbSNP
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.1183-5G>A rs369464069
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.1778+3A>G rs568895329
NM_018834.6(MATR3):c.1778+5T>C
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.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.1991A>C (p.Glu664Ala) rs139589527
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.2234C>T (p.Ala745Val) rs199797401
NM_018834.6(MATR3):c.2238A>G (p.Glu746=)
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.2494-6T>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.322G>T (p.Ala108Ser) rs745440760
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
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.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)

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