List of variants in gene PCCB reported as pathogenic by Eurofins NTD LLC (GA)

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)	rs202247823	0.00016
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_000532.5(PCCB):c.1398+1G>T	rs794727092	0.00003
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)	rs398123464	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_000532.5(PCCB):c.183+1G>A	rs398123460
NM_000532.5(PCCB):c.184-1G>A	rs886044246
NM_000532.5(PCCB):c.2T>A (p.Met1Lys)	rs398123462
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)	rs398123463
NM_000532.5(PCCB):c.419_430dup (p.Lys140_Lys143dup)	rs797044729
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)	rs786200983

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