ClinVar Miner

List of variants in gene PDE6B reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.1401+7_1401+8insA rs537010934 0.00074
NM_000283.4(PDE6B):c.2193+15C>T rs376883350 0.00061
NM_000283.4(PDE6B):c.267C>T (p.Ala89=) rs147181781 0.00046
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_000283.4(PDE6B):c.1860del (p.His620fs) rs769671323 0.00021
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00011
NM_000283.4(PDE6B):c.1258-10T>A rs727504074 0.00007
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000283.4(PDE6B):c.1415G>A (p.Arg472His) rs759164479 0.00005
NM_000283.4(PDE6B):c.2061G>C (p.Lys687Asn) rs149423059 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.485C>T (p.Ser162Leu) rs772012465 0.00001
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.928-9_940dup rs539992414

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.