ClinVar Miner

List of variants in gene PKD2 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1193delinsAA (p.Thr398fs) rs1578133684
NM_000297.4(PKD2):c.1235dup (p.Asn412fs) rs1727650877
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1549-1G>A rs1720121027
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1899-2A>T
NM_000297.4(PKD2):c.1906C>A (p.Gln636Lys) rs398123307
NM_000297.4(PKD2):c.1929dup (p.Ile644fs) rs1720428157
NM_000297.4(PKD2):c.1973del (p.Pro658fs) rs1720429890
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2197G>T (p.Gly733Ter) rs778707203
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2240+1G>C rs1553927783
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs) rs1560626561
NM_000297.4(PKD2):c.2305G>T (p.Glu769Ter) rs1255557802
NM_000297.4(PKD2):c.2568dup (p.Val857fs) rs1578153553
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000297.4(PKD2):c.717C>A (p.Tyr239Ter) rs780351760
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000297.4(PKD2):c.875A>G (p.Tyr292Cys) rs1560608538
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000297.4(PKD2):c.992G>A (p.Cys331Tyr) rs1578130536
NM_000297.4(PKD2):c.992G>C (p.Cys331Ser) rs1578130536

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.