List of variants in gene PCCB reported as likely pathogenic by Counsyl

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: 36

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	rs121964959	0.00006
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	rs374722096	0.00005
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	rs746102997	0.00003
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)	rs121964961	0.00002
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)	rs751538672	0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	rs769521436	0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)	rs753981900	0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	rs879253815	0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)	rs1304714042	0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	rs121964960	0.00001
NM_000532.5(PCCB):c.544-2A>G	rs752377212	0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)	rs572246667	0.00001
NM_000532.5(PCCB):c.1090+2T>C	rs1553782779
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)	rs1553784569
NM_000532.5(PCCB):c.1300-2A>C	rs1553784684
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)	rs1553784721
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)	rs1553784921
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	rs1292452485
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)	rs749908889
NM_000532.5(PCCB):c.184-1G>A	rs886044246
NM_000532.5(PCCB):c.184-2A>G	rs1553774015
NM_000532.5(PCCB):c.196del (p.Ala66fs)	rs1553774018
NM_000532.5(PCCB):c.372+2T>C	rs879253814
NM_000532.5(PCCB):c.429+1G>A	rs1317017233
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)	rs1553774884
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)	rs755776820
NM_000532.5(PCCB):c.553dup (p.Thr185fs)	rs777455573
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)	rs1553777571
NM_000532.5(PCCB):c.649dup (p.Val217fs)	rs796052021
NM_000532.5(PCCB):c.654+1G>C	rs1553777590
NM_000532.5(PCCB):c.763+1G>A	rs1553778912
NM_000532.5(PCCB):c.763+2T>A	rs1553778914
NM_000532.5(PCCB):c.838dup (p.Leu280fs)	rs769968548
NM_000532.5(PCCB):c.884+1G>C	rs1553779458
NM_000532.5(PCCB):c.885-2A>G	rs1553780163
NM_000532.5(PCCB):c.967-2A>C	rs1553782747

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.