ClinVar Miner

List of variants in gene MYOZ2 reported as uncertain significance for not specified

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726 0.00058
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.689G>A (p.Arg230Gln) rs727503332 0.00002
NM_016599.5(MYOZ2):c.76+8T>C rs773231367 0.00002
NM_016599.5(MYOZ2):c.649C>A (p.Pro217Thr) rs751294999 0.00001
NC_000004.11:g.(?_120056938)_(120108945_?)dup
NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))
NM_016599.5(MYOZ2):c.-3A>G rs372377840
NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys) rs1553958177
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_016599.5(MYOZ2):c.77-14A>G rs397517291

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