ClinVar Miner

List of variants in gene DNM1L, YARS2 studied for Myopathy, lactic acidosis, and sideroblastic anemia 2

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*62G>A rs527443669

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