ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter) rs143492730 0.00004
NM_212552.3(BOLA3):c.170G>A (p.Gly57Glu)
NM_212552.3(BOLA3):c.295C>T (p.Arg99Trp)

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