ClinVar Miner

List of variants in gene LOC129999056, PMPCB studied for Multiple mitochondrial dysfunctions syndrome 6

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)	rs77305684	0.00027
NM_004279.3(PMPCB):c.-3G>T	rs771831705	0.00002
NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)
NM_004279.3(PMPCB):c.32C>A (p.Ser11Ter)	rs760746927

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