ClinVar Miner

List of variants in gene PDZD7 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_001195263.2(PDZD7):c.1100del (p.Asp367fs) rs760919233 0.00002
NM_001195263.2(PDZD7):c.1147dup (p.Trp383fs) rs1482655499 0.00001
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs) rs1378470761 0.00001
NM_001195263.2(PDZD7):c.1696C>T (p.Gln566Ter) rs1321213780 0.00001
NM_001195263.2(PDZD7):c.2148del (p.Leu717fs) rs1177622557 0.00001
NM_001195263.2(PDZD7):c.2272C>T (p.Arg758Ter) rs771079550 0.00001
NM_001195263.2(PDZD7):c.2716C>T (p.Gln906Ter) rs1488207344 0.00001
NC_000010.10:g.(?_102783173)_(102783845_?)del
NM_001195263.2(PDZD7):c.1011C>A (p.Tyr337Ter)
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) rs1564634581
NM_001195263.2(PDZD7):c.117_121del (p.Thr40fs)
NM_001195263.2(PDZD7):c.1185del (p.Ala396fs)
NM_001195263.2(PDZD7):c.1222del (p.Asp409fs) rs1434666715
NM_001195263.2(PDZD7):c.1236_1239del (p.Glu414fs)
NM_001195263.2(PDZD7):c.126C>A (p.Tyr42Ter) rs1938012365
NM_001195263.2(PDZD7):c.1337del (p.Gln446fs) rs1852828620
NM_001195263.2(PDZD7):c.136_145del (p.Lys46fs)
NM_001195263.2(PDZD7):c.1529dup (p.Val511fs) rs2134026711
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.1684C>T (p.Gln562Ter)
NM_001195263.2(PDZD7):c.175C>T (p.Arg59Ter)
NM_001195263.2(PDZD7):c.1841+2T>A
NM_001195263.2(PDZD7):c.189_196dup (p.Arg66fs)
NM_001195263.2(PDZD7):c.1987dup (p.Leu663fs)
NM_001195263.2(PDZD7):c.2027_2028del (p.Leu676fs)
NM_001195263.2(PDZD7):c.2082del (p.Leu695fs)
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2133del (p.His711fs)
NM_001195263.2(PDZD7):c.2152C>T (p.Gln718Ter)
NM_001195263.2(PDZD7):c.2182del (p.Leu728fs) rs1162586274
NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs)
NM_001195263.2(PDZD7):c.2220del (p.Val741fs) rs1211492964
NM_001195263.2(PDZD7):c.2415del (p.Ser806fs)
NM_001195263.2(PDZD7):c.2440A>T (p.Lys814Ter) rs1852354094
NM_001195263.2(PDZD7):c.2462del (p.Pro821fs) rs2133998053
NM_001195263.2(PDZD7):c.250_251insC (p.Ile84fs)
NM_001195263.2(PDZD7):c.2568dup (p.Ser857fs) rs1465567484
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs) rs1177831852
NM_001195263.2(PDZD7):c.2713del (p.Leu905fs)
NM_001195263.2(PDZD7):c.2751_2752del (p.Asn918fs)
NM_001195263.2(PDZD7):c.297_304dup (p.Arg102fs)
NM_001195263.2(PDZD7):c.307G>A (p.Gly103Arg)
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.432del (p.Thr145fs) rs2134100484
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.582C>A (p.Cys194Ter)
NM_001195263.2(PDZD7):c.757A>T (p.Lys253Ter)
NM_001195263.2(PDZD7):c.82del (p.Arg28fs)
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs) rs2134074165
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
NM_001195263.2(PDZD7):c.930_949dup (p.Gln317fs)
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter) rs1468599549

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.