ClinVar Miner

List of variants in gene YARS2 reported as likely pathogenic for Myopathy, lactic acidosis, and sideroblastic anemia 2

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) rs372098364 0.00007
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) rs745595833 0.00004
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180

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