ClinVar Miner

List of variants reported as uncertain significance for distal myopathy with vocal cord weakness by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.*1757T>C rs191196444 0.00057
NM_199189.2(MATR3):c.-649C>T rs779721416 0.00053
NM_018834.6(MATR3):c.*1239A>G rs746298588 0.00009
NM_018834.6(MATR3):c.*857C>T rs745417770 0.00009
NM_199189.3(MATR3):c.-422C>T rs751398373 0.00009
NM_018834.6(MATR3):c.*2241A>G rs886060006 0.00006
NM_018834.6(MATR3):c.*2098A>G rs774066454 0.00004
NM_018834.6(MATR3):c.*2171C>T rs886060004 0.00003
NM_018834.6(MATR3):c.*2222G>T rs886060005 0.00003
NM_018834.6(MATR3):c.*587A>G rs535027907 0.00003
NM_018834.6(MATR3):c.*1143G>A rs1357784533 0.00002
NM_018834.6(MATR3):c.*2170T>G rs1403800962 0.00002
NM_018834.6(MATR3):c.*262A>G rs1378690022 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.*1111T>C rs772678059 0.00001
NM_018834.6(MATR3):c.*1891T>G rs886060001 0.00001
NM_018834.6(MATR3):c.*2142G>A rs1561950387 0.00001
NM_018834.6(MATR3):c.*493T>C rs972728364 0.00001
NM_018834.6(MATR3):c.*60A>G rs886059993 0.00001
NM_018834.6(MATR3):c.*770A>G rs886059996 0.00001
NM_018834.6(MATR3):c.-5C>G rs375381025 0.00001
NM_018834.6(MATR3):c.1179A>G (p.Arg393=) rs747566193 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.305G>A (p.Arg102His) rs886059988 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_018834.6(MATR3):c.*138T>C rs1756028343
NM_018834.6(MATR3):c.*1633T>C rs886059998
NM_018834.6(MATR3):c.*1821T>G rs886060000
NM_018834.6(MATR3):c.*1999G>T rs886060002
NM_018834.6(MATR3):c.*2077A>C rs886060003
NM_018834.6(MATR3):c.*413A>T rs886059995
NM_018834.6(MATR3):c.*441C>G rs572126808
NM_018834.6(MATR3):c.*487C>T rs1756049111
NM_018834.6(MATR3):c.*929G>A rs886059997
NM_018834.6(MATR3):c.-124T>C rs886059987
NM_018834.6(MATR3):c.-139G>A rs886059986
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe) rs886059991
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro) rs772433814
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_199189.2(MATR3):c.-563T>C rs1753162477

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