List of variants in gene PMPCB reported as likely pathogenic for fatal multiple mitochondrial dysfunctions syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004279.3(PMPCB):c.606T>A (p.Tyr202Ter)	rs748505216	0.00001
NM_004279.3(PMPCB):c.1078dup (p.Thr360fs)
NM_004279.3(PMPCB):c.543_544del (p.Glu181fs)

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