ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_212552.3(BOLA3):c.-35C>T rs761339384 0.00064
NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys) rs150626228 0.00046
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln) rs144366005 0.00023
NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu) rs149964046 0.00008
NM_212552.3(BOLA3):c.*190G>A rs886056325 0.00006
NM_212552.3(BOLA3):c.-8G>A rs886056327 0.00002
NM_212552.3(BOLA3):c.*31T>C rs886056326 0.00001
NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr) rs565294723 0.00001
NM_212552.3(BOLA3):c.*134T>C rs1692305544
NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr) rs747762311
NM_212552.3(BOLA3):c.21C>T (p.Ala7=) rs1008159965

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