ClinVar Miner

List of variants in gene MYOZ2 studied for Cardiomyopathy

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Total variants: 21
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HGVS dbSNP gnomAD frequency
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.228A>G (p.Gln76=) rs192725921 0.00105
NM_016599.5(MYOZ2):c.360A>G (p.Pro120=) rs117556704 0.00085
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) rs148908208 0.00024
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile) rs554299359 0.00013
NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr) rs149125238 0.00007
NM_016599.5(MYOZ2):c.376+9T>A rs536009604 0.00003
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_016599.5(MYOZ2):c.*4G>T rs1561137822
NM_016599.5(MYOZ2):c.-3dup rs397517288
NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu) rs763449906
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
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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