ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 6 by New York Genome Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004279.3(PMPCB):c.1462C>T (p.Arg488Cys)	rs151236121	0.00101
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)	rs149104855	0.00014
NM_004279.3(PMPCB):c.606T>A (p.Tyr202Ter)	rs748505216	0.00001
NM_004279.3(PMPCB):c.32C>A (p.Ser11Ter)	rs760746927

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