ClinVar Miner

List of variants reported for Multiple mitochondrial dysfunctions syndrome 3 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys)	rs143575106	0.00007
NM_001010867.4(IBA57):c.679+3A>G	rs754620334	0.00006
NM_001010867.4(IBA57):c.24del (p.Gly9fs)	rs2527899567
NM_001010867.4(IBA57):c.778T>C (p.Tyr260His)	rs2527920663

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