ClinVar Miner

List of variants reported as uncertain significance for Amyotrophic lateral sclerosis 21 by Invitae

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Total variants: 47
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HGVS dbSNP
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918
NM_018834.6(MATR3):c.1435-10T>C rs772340385
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
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.1638G>A (p.Met546Ile)
NM_018834.6(MATR3):c.1778+5T>C
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)
NM_018834.6(MATR3):c.1912G>C (p.Asp638His) rs1554148872
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
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.2133G>C (p.Lys711Asn)
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.2213A>G (p.Glu738Gly) rs538917496
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del)
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.2310G>C (p.Lys770Asn)
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)
NM_018834.6(MATR3):c.2372-3dup rs1561945483
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.272G>A (p.Ser91Asn)
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.561T>G (p.Asp187Glu) rs374819399
NM_018834.6(MATR3):c.628_630del (p.Glu210del)
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)
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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