ClinVar Miner

List of variants studied for Myopathy, lactic acidosis, and sideroblastic anemia 2 by Genome-Nilou Lab

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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.291C>T (p.Gly97=) rs11539444 0.14354
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
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.1103+18T>C rs190343859 0.00622
NM_001040436.3(YARS2):c.342C>T (p.Gly114=) rs115606831 0.00371
NM_001040436.3(YARS2):c.*406C>T rs145618550

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