List of variants in gene PMPCB reported as uncertain significance for Multiple mitochondrial dysfunctions syndrome 6

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.1462C>T (p.Arg488Cys)	rs151236121	0.00101
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)	rs149104855	0.00014
NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)	rs752266462	0.00001
NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)	rs777654434	0.00001
NM_004279.3(PMPCB):c.1164_1165del (p.Cys389fs)
NM_004279.3(PMPCB):c.1195C>G (p.Arg399Gly)
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)
NM_004279.3(PMPCB):c.150A>C (p.Gln50His)	rs762743960
NM_004279.3(PMPCB):c.355C>A (p.Leu119Met)
NM_004279.3(PMPCB):c.986G>A (p.Gly329Glu)

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