ClinVar Miner

List of variants in gene PDZD7 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2006-313T>G rs807021 0.83795
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.1749+188A>G rs701837 0.66021
NM_001195263.2(PDZD7):c.928+63C>A rs7075685 0.64301
NM_001195263.2(PDZD7):c.367+7A>G rs6584410 0.64290
NM_001195263.2(PDZD7):c.1522+395A>G rs10786615 0.62464
NM_001195263.2(PDZD7):c.1522+88G>C rs11190793 0.62414
NM_001195263.2(PDZD7):c.-165-311A>G rs4919512 0.51326
NM_001195263.2(PDZD7):c.1749+43del rs34125357 0.40205
NM_001195263.2(PDZD7):c.2617+319T>C rs12784542 0.39835
NM_001195263.2(PDZD7):c.1522+260_1522+265del rs148417050 0.35507
NM_001195263.2(PDZD7):c.928+110C>T rs7075659 0.31040
NM_001195263.2(PDZD7):c.868-203T>G rs1998249 0.30780
NM_001195263.2(PDZD7):c.1523-214G>C rs7090429 0.29677
NM_001195263.2(PDZD7):c.1934-55C>T rs807020 0.28374
NM_001195263.2(PDZD7):c.227-130A>G rs11190797 0.22293
NM_001195263.2(PDZD7):c.542+48C>G rs3740496 0.20587
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu) rs111287837 0.07629
NM_001195263.2(PDZD7):c.1574-148C>T rs10883570 0.07555
NM_001195263.2(PDZD7):c.543-167T>G rs12265408 0.07539
NM_001195263.2(PDZD7):c.1750-196T>C rs11595628 0.07100
NM_001195263.2(PDZD7):c.1750-241C>T rs11591425 0.06836
NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=) rs34693310 0.06258
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His) rs72838683 0.03743
NM_001195263.2(PDZD7):c.2005+244A>G rs77802680 0.03712
NM_001195263.2(PDZD7):c.-86A>G rs117794010 0.03300
NM_001195263.2(PDZD7):c.2618-290A>C rs12780745 0.03296
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg) rs34616847 0.03016
NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=) rs77081173 0.01489
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=) rs35038258 0.01480
NM_001195263.2(PDZD7):c.719+52G>T rs73349171 0.00974
NM_001195263.2(PDZD7):c.367+51del rs376572985 0.00972
NM_001195263.2(PDZD7):c.1933+46G>C rs142872752 0.00956
NM_001195263.2(PDZD7):c.929-281G>A rs148431602 0.00940
NM_001195263.2(PDZD7):c.159G>C (p.Gly53=) rs78072468 0.00899
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) rs34705415 0.00775
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_001195263.2(PDZD7):c.1750-110C>G rs115310716 0.00697
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001195263.2(PDZD7):c.1522+547G>A rs111916601 0.00433
NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn) rs76941691 0.00426
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001195263.2(PDZD7):c.168C>G (p.Arg56=) rs143731734 0.00251
NM_001195263.2(PDZD7):c.368-20A>G rs180764355 0.00241
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001195263.2(PDZD7):c.1934-24T>C rs184675540 0.00189
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) rs397516635 0.00180
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00136
NM_001195263.2(PDZD7):c.2617+25G>A rs147777665 0.00134
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln) rs199608117 0.00131
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=) rs147133210 0.00115
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001195263.2(PDZD7):c.*44G>A rs150768091 0.00097
NM_001195263.2(PDZD7):c.786C>T (p.Asn262=) rs148746572 0.00084
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001195263.2(PDZD7):c.244G>A (p.Asp82Asn) rs139145521 0.00058
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser) rs201727136 0.00039
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) rs571203897 0.00035
NM_001195263.2(PDZD7):c.2372C>T (p.Ser791Phe) rs753244651 0.00034
NM_001195263.2(PDZD7):c.2396C>G (p.Pro799Arg) rs765565547 0.00031
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) rs192668758 0.00029
NM_001195263.2(PDZD7):c.2932C>A (p.Gln978Lys) rs149904839 0.00029
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) rs767734855 0.00027
NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser) rs922807416 0.00026
NM_001195263.2(PDZD7):c.652G>A (p.Asp218Asn) rs142301501 0.00026
NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=) rs776885998 0.00023
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn) rs202154862 0.00022
NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=) rs564150396 0.00016
NM_001195263.2(PDZD7):c.2777G>A (p.Arg926His) rs1052665117 0.00016
NM_001195263.2(PDZD7):c.2863C>T (p.Arg955Trp) rs567692834 0.00016
NM_001195263.2(PDZD7):c.2903G>A (p.Gly968Asp) rs749824364 0.00015
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=) rs773008252 0.00014
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) rs765091855 0.00011
NM_001195263.2(PDZD7):c.539C>T (p.Thr180Met) rs372004783 0.00009
NM_001195263.2(PDZD7):c.2237T>A (p.Leu746Gln) rs775819383 0.00008
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln) rs547610251 0.00007
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg) rs766182369 0.00006
NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=) rs892434373 0.00006
NM_001195263.2(PDZD7):c.2772C>T (p.His924=) rs745512974 0.00006
NM_001195263.2(PDZD7):c.1445G>A (p.Arg482Gln) rs757870735 0.00005
NM_001195263.2(PDZD7):c.2611T>A (p.Ser871Thr) rs780723619 0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275 0.00005
NM_001195263.2(PDZD7):c.1531G>A (p.Val511Met) rs141289018 0.00004
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly) rs528139723 0.00004
NM_001195263.2(PDZD7):c.206T>C (p.Leu69Pro) rs765515973 0.00004
NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His) rs372148542 0.00004
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser) rs925832623 0.00003
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu) rs572462059 0.00002
NM_001195263.2(PDZD7):c.1982G>A (p.Arg661His) rs1394885704 0.00002
NM_001195263.2(PDZD7):c.2068G>A (p.Glu690Lys) rs758298619 0.00002
NM_001195263.2(PDZD7):c.929-13C>T rs1052950462 0.00002
NM_001195263.2(PDZD7):c.-5C>A rs369112912 0.00001
NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=) rs761231526 0.00001
NM_001195263.2(PDZD7):c.1589G>A (p.Arg530Gln) rs574961159 0.00001
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=) rs919717592 0.00001
NM_001195263.2(PDZD7):c.1799T>A (p.Ile600Asn) rs1384928452 0.00001
NM_001195263.2(PDZD7):c.185C>T (p.Ser62Leu) rs1173857385 0.00001
NM_001195263.2(PDZD7):c.2012G>A (p.Arg671His) rs746897547 0.00001
NM_001195263.2(PDZD7):c.2020T>C (p.Phe674Leu) rs1467723397 0.00001
NM_001195263.2(PDZD7):c.2186G>A (p.Arg729Gln) rs1332415010 0.00001
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.226G>C (p.Ala76Pro) rs368813546 0.00001
NM_001195263.2(PDZD7):c.2348G>A (p.Arg783His) rs1064796284 0.00001
NM_001195263.2(PDZD7):c.2481T>G (p.Asp827Glu) rs950755620 0.00001
NM_001195263.2(PDZD7):c.2594T>G (p.Leu865Arg) rs1187930402 0.00001
NM_001195263.2(PDZD7):c.2786A>G (p.Asp929Gly) rs1465344876 0.00001
NM_001195263.2(PDZD7):c.305G>A (p.Arg102His) rs760825921 0.00001
NM_001195263.2(PDZD7):c.371G>A (p.Arg124Gln) rs371205668 0.00001
NM_001195263.2(PDZD7):c.563G>A (p.Arg188His) rs781129674 0.00001
NM_001195263.2(PDZD7):c.584G>A (p.Gly195Asp) rs1473798675 0.00001
NM_001195263.2(PDZD7):c.592C>T (p.Pro198Ser) rs756550515 0.00001
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser) rs765376342 0.00001
NM_001195263.2(PDZD7):c.742G>A (p.Glu248Lys) rs779421889 0.00001
NM_001195263.2(PDZD7):c.782C>T (p.Ala261Val) rs761747020 0.00001
NM_001195263.2(PDZD7):c.902T>C (p.Val301Ala) rs1299423968 0.00001
NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=) rs748001519
NM_001195263.2(PDZD7):c.1075C>G (p.Arg359Gly) rs554745483
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) rs377765391
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1522+186_1522+211del rs1229218697
NM_001195263.2(PDZD7):c.1522+186_1522+215del rs1370354382
NM_001195263.2(PDZD7):c.1522+186_1522+219del rs1294487477
NM_001195263.2(PDZD7):c.1522+186_1522+223del rs1454906725
NM_001195263.2(PDZD7):c.1522+186_1522+227del rs879558782
NM_001195263.2(PDZD7):c.1522+187C>A rs191331869
NM_001195263.2(PDZD7):c.1522+207_1522+211del rs746109316
NM_001195263.2(PDZD7):c.1522+207_1522+215del rs757879415
NM_001195263.2(PDZD7):c.1522+207_1522+219del rs1564632504
NM_001195263.2(PDZD7):c.1522+207_1522+223del rs879632019
NM_001195263.2(PDZD7):c.1522+207del rs66819144
NM_001195263.2(PDZD7):c.1522+224dup rs1491214800
NM_001195263.2(PDZD7):c.1522+228dup rs368025079
NM_001195263.2(PDZD7):c.1522+232dup rs757151762
NM_001195263.2(PDZD7):c.1522+260CCTT[2] rs202036244
NM_001195263.2(PDZD7):c.1522+260CCTT[3] rs202036244
NM_001195263.2(PDZD7):c.1522+301dup rs370482213
NM_001195263.2(PDZD7):c.1522+704del rs61058141
NM_001195263.2(PDZD7):c.1529G>T (p.Gly510Val) rs564604670
NM_001195263.2(PDZD7):c.166C>A (p.Arg56Ser)
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.1739A>C (p.His580Pro) rs1460604773
NM_001195263.2(PDZD7):c.1749+144CA[11] rs10579208
NM_001195263.2(PDZD7):c.1749+144CA[12] rs10579208
NM_001195263.2(PDZD7):c.1750-268T>G rs11190790
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr) rs773503851
NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG rs763493578
NM_001195263.2(PDZD7):c.2006-179ATAA[4] rs10637176
NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG rs71305551
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2185del (p.Arg729fs) rs1590045340
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001195263.2(PDZD7):c.2335CGCAGC[1] (p.773RS[4]) rs200896335
NM_001195263.2(PDZD7):c.2335CGCAGC[2] (p.773RS[5]) rs200896335
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335
NM_001195263.2(PDZD7):c.2473C>T (p.Pro825Ser)
NM_001195263.2(PDZD7):c.2495_2557dup (p.Ala852_Met853insLysValGlyAlaLysGlnGlyProSerGluSerGlyThrGluGlyThrAlaLysGluAlaAla)
NM_001195263.2(PDZD7):c.2618-6_2619del rs2133994584
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs) rs1177831852
NM_001195263.2(PDZD7):c.278C>T (p.Pro93Leu) rs757518712
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001195263.2(PDZD7):c.2806C>T (p.Arg936Ter) rs746485256
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) rs1025144704
NM_001195263.2(PDZD7):c.3062C>T (p.Thr1021Ile)
NM_001195263.2(PDZD7):c.3067_3072del (p.Asp1023_Ser1024del) rs962387635
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn) rs1590069215
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.494G>A (p.Arg165His) rs149282897
NM_001195263.2(PDZD7):c.543-212del rs1315085387
NM_001195263.2(PDZD7):c.547G>A (p.Asp183Asn) rs991026624
NM_001195263.2(PDZD7):c.565C>T (p.Leu189=)
NM_001195263.2(PDZD7):c.574G>A (p.Glu192Lys) rs2134089915
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_001195263.2(PDZD7):c.769C>A (p.Gln257Lys) rs201285908
NM_001195263.2(PDZD7):c.785A>G (p.Asn262Ser)
NM_001195263.2(PDZD7):c.928+20del rs77484072
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter) rs1468599549

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