ClinVar Miner

List of variants in gene combination LOC129992813, PKD2 reported as likely benign for Autosomal dominant polycystic kidney disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.9C>T (p.Asn3=) rs773343245 0.00012
NM_000297.4(PKD2):c.274C>T (p.Pro92Ser) rs940758517 0.00011
NM_000297.4(PKD2):c.70C>T (p.Pro24Ser) rs786204221 0.00011
NM_000297.4(PKD2):c.356G>A (p.Arg119His) rs748654180 0.00010
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys) rs371898195 0.00009
NM_000297.4(PKD2):c.438C>A (p.Gly146=) rs1190814257 0.00004
NM_000297.4(PKD2):c.531C>T (p.His177=) rs895731667 0.00004
NM_000297.4(PKD2):c.78G>T (p.Pro26=) rs899378635 0.00003
NM_000297.4(PKD2):c.390C>A (p.Ala130=) rs1249701986 0.00002
NM_000297.4(PKD2):c.486G>A (p.Pro162=) rs1351393108 0.00002
NM_000297.4(PKD2):c.537C>T (p.Pro179=) rs1186707441 0.00002
NM_000297.4(PKD2):c.538C>T (p.Leu180=) rs973515982 0.00002
NM_000297.4(PKD2):c.120C>T (p.Leu40=) rs1274784310 0.00001
NM_000297.4(PKD2):c.123C>T (p.Ala41=) rs1430133880 0.00001
NM_000297.4(PKD2):c.132C>T (p.Gly44=) rs1302250019 0.00001
NM_000297.4(PKD2):c.180G>A (p.Arg60=) rs1263674695 0.00001
NM_000297.4(PKD2):c.18C>G (p.Arg6=) rs2476356385 0.00001
NM_000297.4(PKD2):c.204G>A (p.Pro68=) rs1206758700 0.00001
NM_000297.4(PKD2):c.273C>T (p.Asn91=) rs1726236947 0.00001
NM_000297.4(PKD2):c.303G>A (p.Glu101=) rs1410235768 0.00001
NM_000297.4(PKD2):c.429C>T (p.Gly143=) rs1248820074 0.00001
NM_000297.4(PKD2):c.495C>T (p.Pro165=) rs1726250538 0.00001
NM_000297.4(PKD2):c.507C>T (p.Gly169=) rs1726255254 0.00001
NM_000297.4(PKD2):c.519G>A (p.Pro173=) rs762929169 0.00001
NM_000297.4(PKD2):c.54G>C (p.Pro18=) rs1370042842 0.00001
NM_000297.4(PKD2):c.-27C>G
NM_000297.4(PKD2):c.-48C>G
NM_000297.4(PKD2):c.114C>A (p.Ala38=) rs2476356778
NM_000297.4(PKD2):c.150G>A (p.Arg50=) rs2476356992
NM_000297.4(PKD2):c.189C>T (p.Ala63=) rs886059695
NM_000297.4(PKD2):c.201C>G (p.Pro67=)
NM_000297.4(PKD2):c.219C>T (p.Ala73=) rs1560591992
NM_000297.4(PKD2):c.324C>T (p.Gly108=) rs2476357826
NM_000297.4(PKD2):c.35C>T (p.Pro12Leu) rs1459980217
NM_000297.4(PKD2):c.366C>T (p.Ser122=)
NM_000297.4(PKD2):c.378C>T (p.Ala126=)
NM_000297.4(PKD2):c.399C>A (p.Ser133=)
NM_000297.4(PKD2):c.39G>C (p.Gly13=) rs1271944416
NM_000297.4(PKD2):c.42C>T (p.Asp14=) rs2476356475
NM_000297.4(PKD2):c.459G>A (p.Arg153=) rs2476358414
NM_000297.4(PKD2):c.477C>T (p.Asp159=) rs2476358532
NM_000297.4(PKD2):c.486G>C (p.Pro162=) rs1351393108
NM_000297.4(PKD2):c.489G>A (p.Pro163=) rs2476358590
NM_000297.4(PKD2):c.504C>T (p.Val168=)
NM_000297.4(PKD2):c.57C>A (p.Pro19=)
NM_000297.4(PKD2):c.6G>A (p.Val2=) rs2476356340
NM_000297.4(PKD2):c.96C>T (p.Gly32=)

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.