ClinVar Miner

List of variants in gene PDZD7 studied for Hearing loss, autosomal recessive 57

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Total variants: 39
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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.1543C>T (p.Gln515Ter) rs979094623 0.00003
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) rs1425787315 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.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.1788_1801del (p.Leu597fs)
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2005+6_2005+9del
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2136del (p.Ile714fs)
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.2368_2377del (p.Lys790fs)
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) rs773193491
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.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.881A>G (p.Tyr294Cys)
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs) rs2134074165
NM_001195263.2(PDZD7):c.928+20del rs77484072

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