ClinVar Miner

List of variants in gene MYOZ2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016599.5(MYOZ2):c.376+9T>A rs536009604 0.00003
NM_016599.5(MYOZ2):c.*4G>T rs1561137822
NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu) rs763449906
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) rs138061447
NM_016599.5(MYOZ2):c.336A>G (p.Pro112=) rs774333721
NM_016599.5(MYOZ2):c.439T>C (p.Tyr147His) rs141181373
NM_016599.5(MYOZ2):c.591del (p.Ala198fs) rs1742285153
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131

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