ClinVar Miner

List of variants in gene MYOZ2 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_016599.5(MYOZ2):c.459A>G (p.Glu153=) rs7687613 0.07218
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_016599.5(MYOZ2):c.750C>T (p.Thr250=) rs17049982 0.00857
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_016599.5(MYOZ2):c.360A>G (p.Pro120=) rs117556704 0.00085
NM_016599.5(MYOZ2):c.-3dup rs397517288
NM_016599.5(MYOZ2):c.561-13dup rs112369914

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