ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Revvity Omics, Revvity

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala) rs139589527 0.00034
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00015
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_018834.6(MATR3):c.1778+3A>G rs568895329 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) rs201903235 0.00001
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) rs777061001 0.00001
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) rs769872126 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) rs1755029530 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) rs982468554 0.00001
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) rs771238896 0.00001
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) rs193920888 0.00001
NM_006790.3(MYOT):c.752G>A (p.Arg251His) rs1477747475 0.00001
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) rs758194318 0.00001
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) rs748921791
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) rs2149978850
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.3(MYOT):c.170del (p.Thr57fs)
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) rs1561660796
NM_006790.3(MYOT):c.680_683del (p.Val227fs) rs775014749
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)

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