ClinVar Miner

List of variants in gene PDZD7 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
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.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00136
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln) rs199608117 0.00131
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001195263.2(PDZD7):c.1929G>A (p.Arg643=) rs560900265 0.00037
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.720-17C>T rs199819658 0.00024
NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=) rs776885998 0.00023
NM_001195263.2(PDZD7):c.2329C>T (p.Arg777Cys) rs531733507 0.00022
NM_001195263.2(PDZD7):c.53G>A (p.Ser18Asn) rs555633587 0.00021
NM_001195263.2(PDZD7):c.720-16G>A rs201165944 0.00017
NM_001195263.2(PDZD7):c.2040C>T (p.Asn680=) rs1020066551 0.00016
NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=) rs564150396 0.00016
NM_001195263.2(PDZD7):c.2727C>T (p.Phe909=) rs769518056 0.00011
NM_001195263.2(PDZD7):c.831G>A (p.Val277=) rs139585498 0.00011
NM_001195263.2(PDZD7):c.929-12T>C rs529887153 0.00011
NM_001195263.2(PDZD7):c.1362C>T (p.Ser454=) rs139448043 0.00009
NM_001195263.2(PDZD7):c.1539G>A (p.Pro513=) rs1032265481 0.00009
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) rs760557332 0.00009
NM_001195263.2(PDZD7):c.2574C>T (p.Gly858=) rs769474600 0.00009
NM_001195263.2(PDZD7):c.336C>T (p.Phe112=) rs370045020 0.00008
NM_001195263.2(PDZD7):c.1842-14T>C rs1045461761 0.00007
NM_001195263.2(PDZD7):c.2013C>T (p.Arg671=) rs978580047 0.00007
NM_001195263.2(PDZD7):c.226+8C>A rs773262625 0.00007
NM_001195263.2(PDZD7):c.1325-16T>A rs887446494 0.00006
NM_001195263.2(PDZD7):c.1399C>T (p.Leu467=) rs771643153 0.00006
NM_001195263.2(PDZD7):c.1749+19C>T rs867025983 0.00006
NM_001195263.2(PDZD7):c.18A>G (p.Ala6=) rs368303229 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.306C>T (p.Arg102=) rs141305163 0.00005
NM_001195263.2(PDZD7):c.630C>T (p.Ile210=) rs146801433 0.00005
NM_001195263.2(PDZD7):c.693G>A (p.Glu231=) rs776593991 0.00005
NM_001195263.2(PDZD7):c.741C>T (p.Ala247=) rs113256591 0.00005
NM_001195263.2(PDZD7):c.1353G>A (p.Lys451=) rs757615613 0.00004
NM_001195263.2(PDZD7):c.1842-12G>A rs894172029 0.00004
NM_001195263.2(PDZD7):c.1875C>T (p.Phe625=) rs779555799 0.00004
NM_001195263.2(PDZD7):c.2397G>T (p.Pro799=) rs759844154 0.00004
NM_001195263.2(PDZD7):c.2598C>T (p.Ser866=) rs745575428 0.00004
NM_001195263.2(PDZD7):c.2694C>T (p.Ala898=) rs555108174 0.00004
NM_001195263.2(PDZD7):c.321T>C (p.His107=) rs374389339 0.00004
NM_001195263.2(PDZD7):c.801C>T (p.Asp267=) rs145548319 0.00004
NM_001195263.2(PDZD7):c.227-20C>T rs934983198 0.00003
NM_001195263.2(PDZD7):c.2652G>A (p.Val884=) rs754174021 0.00003
NM_001195263.2(PDZD7):c.543-18C>T rs766834247 0.00003
NM_001195263.2(PDZD7):c.867+11C>T rs372896584 0.00003
NM_001195263.2(PDZD7):c.1293C>T (p.Ile431=) rs372731105 0.00002
NM_001195263.2(PDZD7):c.1324+20C>T rs571875053 0.00002
NM_001195263.2(PDZD7):c.1329G>A (p.Glu443=) rs1307303457 0.00002
NM_001195263.2(PDZD7):c.1359G>C (p.Gly453=) rs751994539 0.00002
NM_001195263.2(PDZD7):c.1842-13C>T rs948487802 0.00002
NM_001195263.2(PDZD7):c.2073G>C (p.Leu691=) rs1484005793 0.00002
NM_001195263.2(PDZD7):c.226+9G>A rs771745846 0.00002
NM_001195263.2(PDZD7):c.2568C>A (p.Pro856=) rs1308552992 0.00002
NM_001195263.2(PDZD7):c.368-4G>A rs759300268 0.00002
NM_001195263.2(PDZD7):c.471C>T (p.Ser157=) rs368888540 0.00002
NM_001195263.2(PDZD7):c.543-15C>T rs767988413 0.00002
NM_001195263.2(PDZD7):c.582C>T (p.Cys194=) rs137967850 0.00002
NM_001195263.2(PDZD7):c.651C>T (p.Ser217=) rs754527844 0.00002
NM_001195263.2(PDZD7):c.867+18G>C rs546191689 0.00002
NM_001195263.2(PDZD7):c.929-13C>T rs1052950462 0.00002
NM_001195263.2(PDZD7):c.1206C>G (p.Pro402=) rs984801335 0.00001
NM_001195263.2(PDZD7):c.1398G>A (p.Thr466=) rs1274699785 0.00001
NM_001195263.2(PDZD7):c.1522+19A>G rs368721665 0.00001
NM_001195263.2(PDZD7):c.1574-20del rs1487059465 0.00001
NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=) rs761231526 0.00001
NM_001195263.2(PDZD7):c.1641G>C (p.Val547=) rs1374943001 0.00001
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=) rs919717592 0.00001
NM_001195263.2(PDZD7):c.1750-4G>T rs1178852804 0.00001
NM_001195263.2(PDZD7):c.198C>T (p.Arg66=) rs764353177 0.00001
NM_001195263.2(PDZD7):c.2019C>T (p.Gly673=) rs1301327039 0.00001
NM_001195263.2(PDZD7):c.2127C>T (p.His709=) rs1445111982 0.00001
NM_001195263.2(PDZD7):c.2181C>A (p.Pro727=) rs1308804055 0.00001
NM_001195263.2(PDZD7):c.2313G>A (p.Gln771=) rs1276836073 0.00001
NM_001195263.2(PDZD7):c.255T>C (p.His85=) rs374743954 0.00001
NM_001195263.2(PDZD7):c.2617+16A>C rs1221765592 0.00001
NM_001195263.2(PDZD7):c.2618-20G>A rs1056118118 0.00001
NM_001195263.2(PDZD7):c.2781A>G (p.Ala927=) rs1852298934 0.00001
NM_001195263.2(PDZD7):c.2817C>T (p.Ala939=) rs940669870 0.00001
NM_001195263.2(PDZD7):c.2847C>A (p.Val949=) rs905399722 0.00001
NM_001195263.2(PDZD7):c.300C>T (p.Ser100=) rs989994284 0.00001
NM_001195263.2(PDZD7):c.368-8T>C rs752646655 0.00001
NM_001195263.2(PDZD7):c.384C>T (p.Cys128=) rs573879477 0.00001
NM_001195263.2(PDZD7):c.414G>A (p.Gly138=) rs1409253317 0.00001
NM_001195263.2(PDZD7):c.519G>A (p.Lys173=) rs1194699047 0.00001
NM_001195263.2(PDZD7):c.543-12G>A rs199632071 0.00001
NM_001195263.2(PDZD7):c.597C>T (p.Ser199=) rs377395095 0.00001
NM_001195263.2(PDZD7):c.60C>T (p.Gly20=) rs968096580 0.00001
NM_001195263.2(PDZD7):c.627C>A (p.Arg209=) rs140494396 0.00001
NM_001195263.2(PDZD7):c.714G>A (p.Val238=) rs371393755 0.00001
NM_001195263.2(PDZD7):c.719+7G>A rs1219143859 0.00001
NM_001195263.2(PDZD7):c.732T>A (p.Gly244=) rs778472334 0.00001
NM_001195263.2(PDZD7):c.744G>A (p.Glu248=) rs1289239764 0.00001
NM_001195263.2(PDZD7):c.894G>A (p.Lys298=) rs772883835 0.00001
NM_001195263.2(PDZD7):c.897G>A (p.Glu299=) rs374130858 0.00001
NM_001195263.2(PDZD7):c.909G>A (p.Glu303=) rs763533135 0.00001
NM_001195263.2(PDZD7):c.939G>A (p.Gly313=) rs943214411 0.00001
NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=) rs748001519
NM_001195263.2(PDZD7):c.1047C>T (p.Ile349=)
NM_001195263.2(PDZD7):c.1056G>A (p.Gly352=)
NM_001195263.2(PDZD7):c.105A>T (p.Ser35=) rs1938016191
NM_001195263.2(PDZD7):c.1095G>C (p.Arg365=)
NM_001195263.2(PDZD7):c.1116G>C (p.Thr372=) rs2134058586
NM_001195263.2(PDZD7):c.1128G>A (p.Ala376=)
NM_001195263.2(PDZD7):c.1131A>G (p.Gly377=) rs2134058256
NM_001195263.2(PDZD7):c.1191C>T (p.Ile397=) rs1590060069
NM_001195263.2(PDZD7):c.1212C>T (p.Pro404=)
NM_001195263.2(PDZD7):c.1215C>T (p.Gly405=) rs2134056799
NM_001195263.2(PDZD7):c.1282C>A (p.Arg428=) rs1312074306
NM_001195263.2(PDZD7):c.1290C>A (p.Pro430=) rs756607033
NM_001195263.2(PDZD7):c.1302C>T (p.Ser434=) rs1358462226
NM_001195263.2(PDZD7):c.1312C>T (p.Leu438=)
NM_001195263.2(PDZD7):c.1314G>A (p.Leu438=)
NM_001195263.2(PDZD7):c.1324+10G>A
NM_001195263.2(PDZD7):c.1324+11G>C rs751873690
NM_001195263.2(PDZD7):c.1324+16G>A
NM_001195263.2(PDZD7):c.1341G>A (p.Arg447=)
NM_001195263.2(PDZD7):c.1368G>C (p.Gly456=) rs2134049845
NM_001195263.2(PDZD7):c.1392C>T (p.Ser464=) rs2134049595
NM_001195263.2(PDZD7):c.1401G>A (p.Leu467=) rs2134049414
NM_001195263.2(PDZD7):c.1456A>C (p.Arg486=) rs2134048391
NM_001195263.2(PDZD7):c.150G>A (p.Leu50=) rs1247745897
NM_001195263.2(PDZD7):c.1523-20A>C
NM_001195263.2(PDZD7):c.1527G>A (p.Gly509=) rs2134026759
NM_001195263.2(PDZD7):c.1573+12A>G rs2134026223
NM_001195263.2(PDZD7):c.1574-18A>G
NM_001195263.2(PDZD7):c.1581G>A (p.Glu527=) rs2134022945
NM_001195263.2(PDZD7):c.1584G>A (p.Arg528=)
NM_001195263.2(PDZD7):c.159G>T (p.Gly53=)
NM_001195263.2(PDZD7):c.15C>T (p.Phe5=)
NM_001195263.2(PDZD7):c.1620C>T (p.Pro540=)
NM_001195263.2(PDZD7):c.1656G>A (p.Gln552=)
NM_001195263.2(PDZD7):c.1699A>C (p.Arg567=)
NM_001195263.2(PDZD7):c.1716C>T (p.Asp572=) rs533299957
NM_001195263.2(PDZD7):c.1749+10C>G
NM_001195263.2(PDZD7):c.1749+12T>A rs2134021678
NM_001195263.2(PDZD7):c.1749+16A>G
NM_001195263.2(PDZD7):c.1749+17T>A
NM_001195263.2(PDZD7):c.1749+19C>G rs867025983
NM_001195263.2(PDZD7):c.1749+7C>T
NM_001195263.2(PDZD7):c.1750-16C>T
NM_001195263.2(PDZD7):c.1758C>A (p.His586Gln) rs796585261
NM_001195263.2(PDZD7):c.1758C>T (p.His586=) rs796585261
NM_001195263.2(PDZD7):c.1773G>A (p.Glu591=)
NM_001195263.2(PDZD7):c.1800C>A (p.Ile600=)
NM_001195263.2(PDZD7):c.1812G>A (p.Pro604=)
NM_001195263.2(PDZD7):c.1812G>T (p.Pro604=) rs1453369439
NM_001195263.2(PDZD7):c.1836C>T (p.Asp612=)
NM_001195263.2(PDZD7):c.1841+19G>C rs759067016
NM_001195263.2(PDZD7):c.1841+19G>T
NM_001195263.2(PDZD7):c.1841+7G>A rs2134005328
NM_001195263.2(PDZD7):c.1842-5C>G
NM_001195263.2(PDZD7):c.1854C>T (p.Ala618=) rs1852409621
NM_001195263.2(PDZD7):c.1914G>A (p.Glu638=)
NM_001195263.2(PDZD7):c.1933+10G>C
NM_001195263.2(PDZD7):c.1933+11G>C
NM_001195263.2(PDZD7):c.1986C>T (p.His662=)
NM_001195263.2(PDZD7):c.198C>A (p.Arg66=) rs764353177
NM_001195263.2(PDZD7):c.1998C>T (p.Pro666=) rs1445921707
NM_001195263.2(PDZD7):c.2006-11C>T
NM_001195263.2(PDZD7):c.2006-18C>G
NM_001195263.2(PDZD7):c.2006-4C>G
NM_001195263.2(PDZD7):c.2028G>C (p.Leu676=)
NM_001195263.2(PDZD7):c.2034G>A (p.Pro678=)
NM_001195263.2(PDZD7):c.204C>T (p.Ile68=)
NM_001195263.2(PDZD7):c.2067G>C (p.Gly689=)
NM_001195263.2(PDZD7):c.2070G>A (p.Glu690=) rs1007164553
NM_001195263.2(PDZD7):c.2082G>T (p.Arg694=)
NM_001195263.2(PDZD7):c.2112C>T (p.Ala704=)
NM_001195263.2(PDZD7):c.213C>T (p.Asn71=) rs759861723
NM_001195263.2(PDZD7):c.2178C>G (p.Thr726=)
NM_001195263.2(PDZD7):c.2181C>G (p.Pro727=)
NM_001195263.2(PDZD7):c.2202C>G (p.Pro734=)
NM_001195263.2(PDZD7):c.2220C>G (p.Pro740=)
NM_001195263.2(PDZD7):c.2220C>T (p.Pro740=) rs996703598
NM_001195263.2(PDZD7):c.2236C>T (p.Leu746=)
NM_001195263.2(PDZD7):c.2259A>C (p.Thr753=)
NM_001195263.2(PDZD7):c.227-13C>G
NM_001195263.2(PDZD7):c.227-20C>G rs934983198
NM_001195263.2(PDZD7):c.2283T>A (p.Pro761=)
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2319_2324del (p.773RS[5])
NM_001195263.2(PDZD7):c.2325C>T (p.Arg775=)
NM_001195263.2(PDZD7):c.2331T>G (p.Arg777=)
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.2394C>T (p.Ser798=)
NM_001195263.2(PDZD7):c.2400G>A (p.Val800=)
NM_001195263.2(PDZD7):c.2436C>T (p.Tyr812=)
NM_001195263.2(PDZD7):c.2460C>A (p.Pro820=)
NM_001195263.2(PDZD7):c.2460C>G (p.Pro820=) rs1355095137
NM_001195263.2(PDZD7):c.2460C>T (p.Pro820=) rs1355095137
NM_001195263.2(PDZD7):c.24C>T (p.Gly8=)
NM_001195263.2(PDZD7):c.2502G>A (p.Gly834=) rs1381388935
NM_001195263.2(PDZD7):c.2517C>T (p.Pro839=)
NM_001195263.2(PDZD7):c.2586A>G (p.Thr862=) rs1430686128
NM_001195263.2(PDZD7):c.2589G>C (p.Val863=)
NM_001195263.2(PDZD7):c.2617+11G>A
NM_001195263.2(PDZD7):c.2617+11G>T rs1382819438
NM_001195263.2(PDZD7):c.2618-10_2618-9del
NM_001195263.2(PDZD7):c.2618-12_2618-9del
NM_001195263.2(PDZD7):c.2618-17T>C
NM_001195263.2(PDZD7):c.2618-5A>G
NM_001195263.2(PDZD7):c.2691G>A (p.Gly897=) rs552903376
NM_001195263.2(PDZD7):c.2691G>C (p.Gly897=) rs552903376
NM_001195263.2(PDZD7):c.2694C>A (p.Ala898=)
NM_001195263.2(PDZD7):c.2718+10G>A rs1298179593
NM_001195263.2(PDZD7):c.2718+19G>T
NM_001195263.2(PDZD7):c.2718+20G>A
NM_001195263.2(PDZD7):c.2719-10C>T
NM_001195263.2(PDZD7):c.2719-16_2719-13del rs748764184
NM_001195263.2(PDZD7):c.2719-4C>G rs2133993175
NM_001195263.2(PDZD7):c.2751G>A (p.Glu917=) rs181530387
NM_001195263.2(PDZD7):c.2814G>A (p.Lys938=)
NM_001195263.2(PDZD7):c.2832G>A (p.Glu944=) rs960605562
NM_001195263.2(PDZD7):c.2841C>T (p.Val947=) rs2133992649
NM_001195263.2(PDZD7):c.2847C>T (p.Val949=)
NM_001195263.2(PDZD7):c.2850C>T (p.Pro950=) rs1234005159
NM_001195263.2(PDZD7):c.2853G>A (p.Gly951=) rs1338644706
NM_001195263.2(PDZD7):c.2862A>G (p.Pro954=)
NM_001195263.2(PDZD7):c.2868C>G (p.Pro956=)
NM_001195263.2(PDZD7):c.2889C>T (p.Ala963=)
NM_001195263.2(PDZD7):c.2892T>A (p.Leu964=)
NM_001195263.2(PDZD7):c.2895T>C (p.Thr965=)
NM_001195263.2(PDZD7):c.2904C>A (p.Gly968=) rs1000893896
NM_001195263.2(PDZD7):c.2916C>T (p.Asp972=) rs2133992342
NM_001195263.2(PDZD7):c.2946T>C (p.Ala982=)
NM_001195263.2(PDZD7):c.2964C>T (p.His988=)
NM_001195263.2(PDZD7):c.2991C>A (p.Pro997=)
NM_001195263.2(PDZD7):c.3021C>T (p.Leu1007=)
NM_001195263.2(PDZD7):c.3024G>A (p.Gln1008=)
NM_001195263.2(PDZD7):c.3030T>G (p.Thr1010=) rs2133991975
NM_001195263.2(PDZD7):c.3045C>T (p.Pro1015=)
NM_001195263.2(PDZD7):c.312C>A (p.Gly104=)
NM_001195263.2(PDZD7):c.333C>T (p.Ile111=) rs770417426
NM_001195263.2(PDZD7):c.363T>C (p.Ser121=) rs557126080
NM_001195263.2(PDZD7):c.370C>A (p.Arg124=) rs114917863
NM_001195263.2(PDZD7):c.381G>C (p.Leu127=)
NM_001195263.2(PDZD7):c.39C>A (p.Gly13=) rs1590081374
NM_001195263.2(PDZD7):c.402G>A (p.Thr134=)
NM_001195263.2(PDZD7):c.432C>T (p.Thr144=)
NM_001195263.2(PDZD7):c.450A>G (p.Val150=)
NM_001195263.2(PDZD7):c.510G>A (p.Pro170=) rs368769051
NM_001195263.2(PDZD7):c.528G>A (p.Lys176=) rs935892074
NM_001195263.2(PDZD7):c.540G>A (p.Thr180=)
NM_001195263.2(PDZD7):c.543-17C>G rs761195599
NM_001195263.2(PDZD7):c.543-18C>G
NM_001195263.2(PDZD7):c.57C>T (p.Ser19=)
NM_001195263.2(PDZD7):c.606C>T (p.Ser202=)
NM_001195263.2(PDZD7):c.60C>G (p.Gly20=) rs968096580
NM_001195263.2(PDZD7):c.615T>C (p.Asp205=)
NM_001195263.2(PDZD7):c.621C>G (p.Val207=) rs2134089282
NM_001195263.2(PDZD7):c.630C>A (p.Ile210=) rs146801433
NM_001195263.2(PDZD7):c.633C>T (p.Val211=)
NM_001195263.2(PDZD7):c.660C>T (p.Phe220=) rs2134088607
NM_001195263.2(PDZD7):c.672C>T (p.Phe224=) rs1206504105
NM_001195263.2(PDZD7):c.6G>T (p.Ala2=)
NM_001195263.2(PDZD7):c.720-5C>T
NM_001195263.2(PDZD7):c.732T>G (p.Gly244=) rs778472334
NM_001195263.2(PDZD7):c.736C>T (p.Leu246=)
NM_001195263.2(PDZD7):c.741C>A (p.Ala247=) rs113256591
NM_001195263.2(PDZD7):c.768C>T (p.Asp256=) rs1310439158
NM_001195263.2(PDZD7):c.780A>G (p.Ala260=) rs2134084887
NM_001195263.2(PDZD7):c.822C>T (p.Ala274=)
NM_001195263.2(PDZD7):c.825G>A (p.Val275=) rs1853121330
NM_001195263.2(PDZD7):c.834G>T (p.Leu278=) rs1026883817
NM_001195263.2(PDZD7):c.846G>A (p.Thr282=)
NM_001195263.2(PDZD7):c.867+17G>A
NM_001195263.2(PDZD7):c.867+19G>A rs1189362913
NM_001195263.2(PDZD7):c.867+19G>T
NM_001195263.2(PDZD7):c.868-16A>C
NM_001195263.2(PDZD7):c.868-4C>G
NM_001195263.2(PDZD7):c.868-5C>A rs1853036900
NM_001195263.2(PDZD7):c.873C>A (p.Thr291=) rs752366856
NM_001195263.2(PDZD7):c.873C>T (p.Thr291=)
NM_001195263.2(PDZD7):c.891C>T (p.Tyr297=)
NM_001195263.2(PDZD7):c.928+14A>T
NM_001195263.2(PDZD7):c.928+20C>G
NM_001195263.2(PDZD7):c.928+21A>T
NM_001195263.2(PDZD7):c.929-8C>T
NM_001195263.2(PDZD7):c.930G>A (p.Leu310=)
NM_001195263.2(PDZD7):c.952C>T (p.Leu318=)
NM_001195263.2(PDZD7):c.954G>A (p.Leu318=) rs1852906869
NM_001195263.2(PDZD7):c.963C>G (p.Ala321=)
NM_001195263.2(PDZD7):c.963C>T (p.Ala321=) rs932953368
NM_001195263.2(PDZD7):c.969G>A (p.Glu323=)

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