List of variants in gene PCCB reported as pathogenic by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Minimum submission review status:		Collection method:
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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	rs879253815	0.00001
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)	rs777027944
NM_000532.5(PCCB):c.1498+2T>C	rs879253816
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.183+5G>A	rs879253813
NM_000532.5(PCCB):c.372+2T>C	rs879253814

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