ClinVar Miner

List of variants in gene TMEM67 reported as uncertain significance for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 354
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_153704.6(TMEM67):c.*1653G>A rs544858713 0.00196
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_153704.6(TMEM67):c.*853G>A rs191740525 0.00133
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153704.6(TMEM67):c.*690T>A rs535033320 0.00056
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_153704.6(TMEM67):c.*941T>C rs112317911 0.00041
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_153704.6(TMEM67):c.*279T>C rs752060945 0.00017
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe) rs367722582 0.00009
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.*1424C>A rs1024783132 0.00006
NM_153704.6(TMEM67):c.2100+5A>G rs545189546 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_153704.6(TMEM67):c.1561C>T (p.His521Tyr) rs558566529 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153704.6(TMEM67):c.453G>C (p.Glu151Asp) rs200155700 0.00005
NM_153704.6(TMEM67):c.507G>A (p.Arg169=) rs759319668 0.00005
NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu) rs764304394 0.00004
NM_153704.6(TMEM67):c.1352G>A (p.Arg451Gln) rs75165625 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.2556+4T>G rs772449181 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_153704.6(TMEM67):c.2932G>A (p.Val978Ile) rs371965185 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.599G>A (p.Ser200Asn) rs1284289042 0.00004
NM_153704.6(TMEM67):c.978+5A>C rs1022082198 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_153704.6(TMEM67):c.*942G>A rs886063177 0.00003
NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val) rs755280678 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.2783G>A (p.Ser928Asn) rs538380011 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_153704.6(TMEM67):c.*822G>A rs1295335321 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.169A>G (p.Ile57Val) rs1303516077 0.00002
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) rs142280651 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln) rs754934520 0.00002
NM_153704.6(TMEM67):c.2314A>G (p.Met772Val) rs777291564 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys) rs781254251 0.00002
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile) rs781361559 0.00002
NM_153704.6(TMEM67):c.5C>T (p.Ala2Val) rs770813739 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.64G>A (p.Val22Met) rs770779757 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.799G>A (p.Ala267Thr) rs752179627 0.00002
NM_153704.6(TMEM67):c.*179T>C rs886063174 0.00001
NM_153704.6(TMEM67):c.*761T>G rs553442637 0.00001
NM_153704.6(TMEM67):c.1066C>G (p.Leu356Val) rs1371143789 0.00001
NM_153704.6(TMEM67):c.1145T>G (p.Ile382Ser) rs1212851821 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1209T>G (p.Asp403Glu) rs1160691103 0.00001
NM_153704.6(TMEM67):c.1288+6A>G rs766852784 0.00001
NM_153704.6(TMEM67):c.1294A>G (p.Asn432Asp) rs768285863 0.00001
NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser) rs1165968607 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.1886T>A (p.Ile629Lys) rs1213811614 0.00001
NM_153704.6(TMEM67):c.1895T>G (p.Ile632Ser) rs1440787153 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.1A>G (p.Met1Val) rs772948173 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2176C>T (p.Pro726Ser) rs746521577 0.00001
NM_153704.6(TMEM67):c.2188A>G (p.Ile730Val) rs776427277 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala) rs747598603 0.00001
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln) rs1166437802 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.239G>A (p.Cys80Tyr) rs1812545095 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp) rs753654003 0.00001
NM_153704.6(TMEM67):c.2661+4T>C rs1298703067 0.00001
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) rs1461948623 0.00001
NM_153704.6(TMEM67):c.2732T>A (p.Met911Lys) rs765686583 0.00001
NM_153704.6(TMEM67):c.2774A>G (p.Tyr925Cys) rs376103225 0.00001
NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala) rs199549673 0.00001
NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr) rs1247854097 0.00001
NM_153704.6(TMEM67):c.2948T>C (p.Leu983Ser) rs775933592 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.601A>G (p.Thr201Ala) rs771031546 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.766A>G (p.Asn256Asp) rs369178053 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) rs864622335 0.00001
NM_153704.6(TMEM67):c.983C>T (p.Thr328Ile) rs776653840 0.00001
NC_000008.10:g.(?_94767143)_(94828680_?)dup
NC_000008.11:g.93799747GGAATTATACAGGTAA[3]
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_153704.5(TMEM67):c.*1676C>T rs190176192
NM_153704.6(TMEM67):c.*1099A>G rs1808956444
NM_153704.6(TMEM67):c.*1434T>C rs886063178
NM_153704.6(TMEM67):c.*218T>C rs886063175
NM_153704.6(TMEM67):c.*25C>T rs1808912343
NM_153704.6(TMEM67):c.*300G>A rs886063176
NM_153704.6(TMEM67):c.*512T>C rs570774838
NM_153704.6(TMEM67):c.*580A>G rs995505639
NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe) rs2130668790
NM_153704.6(TMEM67):c.1048G>A (p.Glu350Lys)
NM_153704.6(TMEM67):c.1050A>C (p.Glu350Asp) rs1813838328
NM_153704.6(TMEM67):c.1065+3A>C
NM_153704.6(TMEM67):c.1066-4_1066-3delinsAT
NM_153704.6(TMEM67):c.1093A>G (p.Asn365Asp)
NM_153704.6(TMEM67):c.1102T>A (p.Tyr368Asn)
NM_153704.6(TMEM67):c.1121A>G (p.Tyr374Cys)
NM_153704.6(TMEM67):c.1131+3A>G
NM_153704.6(TMEM67):c.1132-2_1132-1insAAAA
NM_153704.6(TMEM67):c.1159A>G (p.Ile387Val)
NM_153704.6(TMEM67):c.1160T>G (p.Ile387Ser)
NM_153704.6(TMEM67):c.1174C>T (p.Pro392Ser)
NM_153704.6(TMEM67):c.1195C>T (p.Leu399Phe)
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.1220A>G (p.His407Arg) rs777641401
NM_153704.6(TMEM67):c.1220A>T (p.His407Leu)
NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu) rs1812503608
NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)
NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)
NM_153704.6(TMEM67):c.1271A>C (p.Lys424Thr) rs2130686722
NM_153704.6(TMEM67):c.1287A>G (p.Gln429=)
NM_153704.6(TMEM67):c.1316C>A (p.Thr439Asn)
NM_153704.6(TMEM67):c.1333G>C (p.Val445Leu) rs1174323452
NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)
NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile) rs1036689562
NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)
NM_153704.6(TMEM67):c.1433C>T (p.Thr478Ile)
NM_153704.6(TMEM67):c.1447A>G (p.Ile483Val)
NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)
NM_153704.6(TMEM67):c.1486G>A (p.Asp496Asn)
NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn) rs144253777
NM_153704.6(TMEM67):c.148G>C (p.Asp50His) rs144253777
NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1519G>T (p.Val507Phe)
NM_153704.6(TMEM67):c.151AAC[1] (p.Asn52del)
NM_153704.6(TMEM67):c.1529C>T (p.Ser510Leu) rs1814362454
NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr) rs1329676384
NM_153704.6(TMEM67):c.1549C>G (p.His517Asp)
NM_153704.6(TMEM67):c.1559C>T (p.Ala520Val) rs2130711278
NM_153704.6(TMEM67):c.1575+6T>G rs2130711420
NM_153704.6(TMEM67):c.1580C>T (p.Ala527Val)
NM_153704.6(TMEM67):c.1584G>C (p.Leu528Phe) rs1340120220
NM_153704.6(TMEM67):c.1589T>C (p.Val530Ala)
NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)
NM_153704.6(TMEM67):c.1594G>T (p.Gly532Cys)
NM_153704.6(TMEM67):c.159G>C (p.Gln53His)
NM_153704.6(TMEM67):c.1628C>T (p.Thr543Ile)
NM_153704.6(TMEM67):c.1652G>A (p.Gly551Glu) rs2130719408
NM_153704.6(TMEM67):c.1661T>C (p.Met554Thr)
NM_153704.6(TMEM67):c.1662G>T (p.Met554Ile) rs184632089
NM_153704.6(TMEM67):c.1674+3A>G rs863225224
NM_153704.6(TMEM67):c.1674+5A>G
NM_153704.6(TMEM67):c.1674+5A>T rs863224813
NM_153704.6(TMEM67):c.1675-6T>C
NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly) rs1812506710
NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)
NM_153704.6(TMEM67):c.1697A>G (p.Tyr566Cys)
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.1732A>G (p.Ile578Val) rs2130727646
NM_153704.6(TMEM67):c.1758G>T (p.Trp586Cys) rs1814570287
NM_153704.6(TMEM67):c.1765T>C (p.Phe589Leu)
NM_153704.6(TMEM67):c.1773A>C (p.Lys591Asn) rs2130727915
NM_153704.6(TMEM67):c.1775C>G (p.Ala592Gly)
NM_153704.6(TMEM67):c.1783T>C (p.Ser595Pro)
NM_153704.6(TMEM67):c.1786G>C (p.Val596Leu)
NM_153704.6(TMEM67):c.1786G>T (p.Val596Leu) rs778478057
NM_153704.6(TMEM67):c.1806G>A (p.Met602Ile)
NM_153704.6(TMEM67):c.1825T>C (p.Phe609Leu)
NM_153704.6(TMEM67):c.182C>G (p.Ser61Trp)
NM_153704.6(TMEM67):c.1832C>T (p.Thr611Ile)
NM_153704.6(TMEM67):c.1864C>T (p.Leu622=)
NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)
NM_153704.6(TMEM67):c.1906G>T (p.Val636Leu)
NM_153704.6(TMEM67):c.1913T>A (p.Phe638Tyr) rs2130734310
NM_153704.6(TMEM67):c.1913T>C (p.Phe638Ser)
NM_153704.6(TMEM67):c.1942G>A (p.Val648Ile) rs764882441
NM_153704.6(TMEM67):c.1961-3C>T
NM_153704.6(TMEM67):c.1961-7T>A rs1563472215
NM_153704.6(TMEM67):c.1963G>A (p.Glu655Lys)
NM_153704.6(TMEM67):c.2001A>G (p.Ile667Met)
NM_153704.6(TMEM67):c.2016T>C (p.Phe672=)
NM_153704.6(TMEM67):c.2036A>G (p.Glu679Gly)
NM_153704.6(TMEM67):c.2042A>G (p.Gln681Arg)
NM_153704.6(TMEM67):c.2043G>T (p.Gln681His)
NM_153704.6(TMEM67):c.2065C>G (p.Leu689Val) rs576166051
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2089T>C (p.Phe697Leu)
NM_153704.6(TMEM67):c.210G>C (p.Arg70Ser) rs2130523134
NM_153704.6(TMEM67):c.2135C>T (p.Ser712Leu)
NM_153704.6(TMEM67):c.2137TCT[1] (p.Ser715del)
NM_153704.6(TMEM67):c.2145T>G (p.Ser715Arg) rs1814779822
NM_153704.6(TMEM67):c.2146C>A (p.Leu716Ile)
NM_153704.6(TMEM67):c.2159C>A (p.Pro720Gln)
NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)
NM_153704.6(TMEM67):c.2166C>G (p.Ser722Arg)
NM_153704.6(TMEM67):c.2167T>C (p.Tyr723His) rs576079013
NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)
NM_153704.6(TMEM67):c.2180A>G (p.Tyr727Cys)
NM_153704.6(TMEM67):c.223G>A (p.Gly75Arg)
NM_153704.6(TMEM67):c.224-2dup
NM_153704.6(TMEM67):c.2242-7G>A rs761170798
NM_153704.6(TMEM67):c.2245G>A (p.Val749Met) rs753896569
NM_153704.6(TMEM67):c.2263T>C (p.Tyr755His) rs2130757495
NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)
NM_153704.6(TMEM67):c.2298C>G (p.Phe766Leu) rs372104198
NM_153704.6(TMEM67):c.2322+4A>C rs1386323468
NM_153704.6(TMEM67):c.2323-5_2323-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGAGAGGGAGCGGGCGCCCGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACCTATTCTCTTTTT rs2130763431
NM_153704.6(TMEM67):c.2325A>G (p.Ile775Met) rs777320782
NM_153704.6(TMEM67):c.2336T>G (p.Leu779Arg) rs2130763583
NM_153704.6(TMEM67):c.2339T>C (p.Leu780Ser)
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr) rs1563673490
NM_153704.6(TMEM67):c.2341T>C (p.Ser781Pro)
NM_153704.6(TMEM67):c.2347A>G (p.Lys783Glu)
NM_153704.6(TMEM67):c.2348A>G (p.Lys783Arg)
NM_153704.6(TMEM67):c.2350T>G (p.Cys784Gly) rs2130763694
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr) rs1328212583
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2385T>A (p.His795Gln)
NM_153704.6(TMEM67):c.2407G>A (p.Glu803Lys)
NM_153704.6(TMEM67):c.2425C>G (p.Leu809Val)
NM_153704.6(TMEM67):c.2440-5T>C rs2130780220
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.2515A>C (p.Met839Leu) rs1041608878
NM_153704.6(TMEM67):c.2556+5G>C rs886063172
NM_153704.6(TMEM67):c.2557-3T>G rs1808586167
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.2576T>A (p.Leu859Gln)
NM_153704.6(TMEM67):c.2600T>C (p.Phe867Ser) rs1563481582
NM_153704.6(TMEM67):c.2627T>C (p.Met876Thr) rs528989414
NM_153704.6(TMEM67):c.2635A>G (p.Lys879Glu)
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.6(TMEM67):c.2659C>A (p.His887Asn)
NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe) rs1586091861
NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn) rs1170985091
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu) rs1808622944
NM_153704.6(TMEM67):c.2701CTT[1] (p.Leu902del) rs2130783329
NM_153704.6(TMEM67):c.2716C>T (p.Leu906Phe) rs200477047
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.6(TMEM67):c.2737C>A (p.Pro913Thr) rs1254095209
NM_153704.6(TMEM67):c.2744A>T (p.Glu915Val) rs1450784678
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.2769A>T (p.Glu923Asp)
NM_153704.6(TMEM67):c.2771G>A (p.Gly924Asp)
NM_153704.6(TMEM67):c.2774A>T (p.Tyr925Phe) rs376103225
NM_153704.6(TMEM67):c.2776T>C (p.Ser926Pro) rs763360678
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr) rs1808863667
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg) rs1197717166
NM_153704.6(TMEM67):c.2827G>T (p.Asp943Tyr) rs2130799791
NM_153704.6(TMEM67):c.282T>C (p.Ala94=) rs1812547702
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.2858C>T (p.Ala953Val)
NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser) rs537935631
NM_153704.6(TMEM67):c.288T>G (p.Ile96Met) rs1812547985
NM_153704.6(TMEM67):c.2918A>G (p.Tyr973Cys)
NM_153704.6(TMEM67):c.2924G>T (p.Arg975Leu) rs191759530
NM_153704.6(TMEM67):c.2933T>C (p.Val978Ala)
NM_153704.6(TMEM67):c.2942A>G (p.Lys981Arg) rs2130802666
NM_153704.6(TMEM67):c.2981_2982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCAAAGATTTTT (p.Leu994delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer) rs2130802792
NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)
NM_153704.6(TMEM67):c.308A>G (p.Asn103Ser) rs1289474043
NM_153704.6(TMEM67):c.312+3G>A rs1404637051
NM_153704.6(TMEM67):c.317G>A (p.Gly106Asp) rs1812680811
NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)
NM_153704.6(TMEM67):c.32T>A (p.Met11Lys) rs544982647
NM_153704.6(TMEM67):c.355A>G (p.Ser119Gly)
NM_153704.6(TMEM67):c.361T>G (p.Leu121Val) rs934823566
NM_153704.6(TMEM67):c.376A>C (p.Lys126Gln) rs2130545126
NM_153704.6(TMEM67):c.392T>C (p.Ile131Thr) rs2130545286
NM_153704.6(TMEM67):c.401T>C (p.Ile134Thr)
NM_153704.6(TMEM67):c.406+4A>G
NM_153704.6(TMEM67):c.407-8C>G rs778605297
NM_153704.6(TMEM67):c.407T>C (p.Val136Ala) rs2130576247
NM_153704.6(TMEM67):c.429_431del (p.Leu145del)
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu) rs1563679408
NM_153704.6(TMEM67):c.454C>T (p.Leu152Phe) rs1563679425
NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)
NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)
NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)
NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser) rs1812963679
NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg) rs2130576945
NM_153704.6(TMEM67):c.506+5G>A
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu) rs1813038272
NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser) rs1300371747
NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)
NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
NM_153704.6(TMEM67):c.577-12T>A
NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)
NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)
NM_153704.6(TMEM67):c.651+8T>C
NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr) rs767886819
NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala) rs2130521457
NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu) rs2130622470
NM_153704.6(TMEM67):c.714+4A>G
NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)
NM_153704.6(TMEM67):c.722C>T (p.Ala241Val) rs115766095
NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile) rs1405448469
NM_153704.6(TMEM67):c.756G>C (p.Met252Ile) rs2130662628
NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)
NM_153704.6(TMEM67):c.796G>C (p.Asp266His)
NM_153704.6(TMEM67):c.816G>C (p.Gln272His)
NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu) rs748922044
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.854A>T (p.His285Leu)
NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)
NM_153704.6(TMEM67):c.869+3A>T rs1813784101
NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg) rs2130664380
NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)
NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)
NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)
NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)
NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)
NM_153704.6(TMEM67):c.978+3A>G rs775256658
NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser) rs2130668443
NM_153704.6(TMEM67):c.995T>G (p.Phe332Cys) rs2130668557

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