ClinVar Miner

List of variants in gene PCCB reported by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 0.00003
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583 0.00003
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
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.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 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.563G>C (p.Gly188Ala) rs796052024 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.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
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.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
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.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
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.966+1G>T rs1385850128
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983

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.