ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 6 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp) rs144744182 0.00172
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val) rs77305684 0.00027
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)

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