ClinVar Miner

List of variants in gene PDZD7 studied for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) rs807022 0.81877
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) rs807023 0.81454
NM_001195263.2(PDZD7):c.367+7A>G rs6584410 0.64290
NM_001195263.2(PDZD7):c.1749+43del rs34125357 0.40205
NM_001195263.2(PDZD7):c.1934-55C>T rs807020 0.28374
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) rs571203897 0.00035
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) rs201268590 0.00031
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn) rs202154862 0.00022
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275 0.00005
NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu) rs372777810 0.00004
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser) rs1027527004 0.00003
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) rs761666704 0.00003
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) rs1425787315 0.00001
NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp) rs573956926 0.00001
NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr) rs911911177 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195263.2(PDZD7):c.928+1G>A rs778565403 0.00001
NM_001195263.2(PDZD7):c.1207del (p.His403fs) rs1554835103
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1522+2dup rs2134047337
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) rs1554834186
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.1750-2A>G
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu) rs1170141042
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg) rs1852358426
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) rs773193491
NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr) rs2133994567
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) rs1025144704
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) rs758884514
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001195263.2(PDZD7):c.928+20del rs77484072

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.