ClinVar Miner

List of variants studied for Myofibrillar myopathy 3 by Illumina Laboratory Services, Illumina

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.*98G>A rs4288 0.10310
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_006790.3(MYOT):c.-251A>G rs6863775 0.01894
NM_006790.3(MYOT):c.*190C>G rs74711051 0.01853
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00152
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_006790.3(MYOT):c.*404G>A rs188240755 0.00051
NM_006790.3(MYOT):c.*463C>T rs149535236 0.00051
NM_006790.3(MYOT):c.*311A>T rs966703412 0.00044
NM_006790.3(MYOT):c.*372G>A rs1029781405 0.00036
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_006790.3(MYOT):c.-165C>T rs866748883 0.00006
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00005
NM_006790.3(MYOT):c.*418T>C rs778508971 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_006790.3(MYOT):c.-286C>G rs1281967239 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) rs752723849 0.00002
NM_006790.3(MYOT):c.*167A>G rs886059969 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.191T>A (p.Met64Lys) rs763147610 0.00001
NM_006790.3(MYOT):c.*188A>C rs1561666869
NM_006790.3(MYOT):c.*50T>G rs1755640829
NM_006790.3(MYOT):c.-89del rs886059966
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.348G>A (p.Met116Ile) rs1295803826
NM_006790.3(MYOT):c.356+13T>G rs1461754985

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