ClinVar Miner

List of variants reported as benign for Myofibrillar myopathy 3 by Illumina Laboratory Services, Illumina

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Total variants: 12
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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.-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.617G>A (p.Gly206Asp) rs151094883 0.00028

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