ClinVar Miner

List of variants studied for Spheroid body myopathy by Illumina Clinical Services Laboratory,Illumina

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Total variants: 39
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HGVS dbSNP
NM_006790.2(MYOT):c.*167A>G rs886059969
NM_006790.2(MYOT):c.*190C>G rs74711051
NM_006790.2(MYOT):c.*418T>C rs778508971
NM_006790.2(MYOT):c.*463C>T rs149535236
NM_006790.2(MYOT):c.*98G>A rs4288
NM_006790.2(MYOT):c.-165C>T rs866748883
NM_006790.2(MYOT):c.-233C>A rs186433387
NM_006790.2(MYOT):c.-251A>G rs6863775
NM_006790.2(MYOT):c.-89del rs886059966
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.1190+12A>G rs183456886
NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu) rs78633961
NM_006790.2(MYOT):c.120T>A (p.Ile40=) rs139254363
NM_006790.2(MYOT):c.1222T>C (p.Leu408=) rs886059968
NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) rs144731446
NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.323A>C (p.Asn108Thr) rs142416150
NM_006790.2(MYOT):c.335T>A (p.Ile112Asn) rs752723849
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln) rs71578935
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.629C>T (p.Ser210Leu) rs756669574
NM_006790.2(MYOT):c.780G>A (p.Ser260=) rs116773838
NM_006790.2(MYOT):c.817-11T>C rs377759571
NM_006790.2(MYOT):c.981T>C (p.Asn327=) rs148479015
NM_006790.3(MYOT):c.*188A>C
NM_006790.3(MYOT):c.*311A>T
NM_006790.3(MYOT):c.*372G>A
NM_006790.3(MYOT):c.*404G>A
NM_006790.3(MYOT):c.*50T>G
NM_006790.3(MYOT):c.-286C>G
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
NM_006790.3(MYOT):c.191T>A (p.Met64Lys)
NM_006790.3(MYOT):c.348G>A (p.Met116Ile)
NM_006790.3(MYOT):c.356+13T>G

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