List of variants reported as pathogenic for Myopathy, lactic acidosis, and sideroblastic anemia 2 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter)	rs587777214	0.00002
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly)	rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)	rs587777213
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)	rs267607180
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp)	rs11539445

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