ClinVar Miner

List of variants in gene PDE6D studied for Joubert syndrome 17

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile) rs766118708 0.00004
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala) rs1448692172 0.00001
NM_002601.4(PDE6D):c.114del (p.Ser39fs) rs772392692 0.00001
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu) rs1430956453 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NC_000002.11:g.(?_232597662)_(232597763_?)del
NC_000002.11:g.(?_232597662)_(232597763_?)dup
NC_000002.11:g.(?_232597662)_(232603918_?)dup
NC_000002.11:g.(?_232645755)_(232645824_?)del
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_002601.4(PDE6D):c.266-3C>T rs2106260539
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro) rs2106260506
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile) rs2048708941
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys) rs1023549002
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp) rs2106256926
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser) rs1366113264
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter) rs2106294164
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.51A>C (p.Leu17=) rs1328575509
NM_002601.4(PDE6D):c.66del (p.Arg23fs) rs2106261987
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp) rs570163390
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)

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.