ClinVar Miner

List of variants in gene TMEM67 reported as likely benign for Joubert syndrome; Meckel-Gruber syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 457
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00209
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00063
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803 0.00029
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00027
NM_153704.6(TMEM67):c.1131+19A>C rs747877982 0.00014
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00013
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00013
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00011
NM_153704.6(TMEM67):c.1066-16T>C rs759040072 0.00009
NM_153704.6(TMEM67):c.978+19A>G rs575288126 0.00009
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=) rs1397933745 0.00008
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=) rs748566666 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.69C>T (p.Thr23=) rs745801674 0.00007
NM_153704.6(TMEM67):c.1131+13G>A rs545053602 0.00006
NM_153704.6(TMEM67):c.1961-19A>G rs996724179 0.00006
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=) rs368159329 0.00006
NM_153704.6(TMEM67):c.279T>C (p.Pro93=) rs199900812 0.00006
NM_153704.6(TMEM67):c.510C>T (p.Cys170=) rs754191151 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 0.00006
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=) rs562251879 0.00005
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=) rs776258357 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00005
NM_153704.6(TMEM67):c.1412+19A>G rs757870971 0.00004
NM_153704.6(TMEM67):c.1413-12T>G rs369870113 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.174C>T (p.Ser58=) rs151047825 0.00004
NM_153704.6(TMEM67):c.1773+10T>C rs371485093 0.00004
NM_153704.6(TMEM67):c.1860+14G>T rs369727716 0.00004
NM_153704.6(TMEM67):c.261C>T (p.Ile87=) rs190249177 0.00004
NM_153704.6(TMEM67):c.2765-12T>A rs1232793342 0.00004
NM_153704.6(TMEM67):c.313-19T>C rs748779738 0.00004
NM_153704.6(TMEM67):c.507-16T>C rs367547273 0.00004
NM_153704.6(TMEM67):c.1131+12C>T rs755150914 0.00003
NM_153704.6(TMEM67):c.1412+18G>T rs771301847 0.00003
NM_153704.6(TMEM67):c.1576-10T>C rs1464558705 0.00003
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=) rs375402551 0.00003
NM_153704.6(TMEM67):c.1774-19C>G rs780507751 0.00003
NM_153704.6(TMEM67):c.1983C>T (p.Ala661=) rs1297734907 0.00003
NM_153704.6(TMEM67):c.2208T>C (p.Ser736=) rs1436606444 0.00003
NM_153704.6(TMEM67):c.223+13G>C rs762188098 0.00003
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=) rs150658618 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile) rs561584664 0.00003
NM_153704.6(TMEM67):c.390C>T (p.Pro130=) rs1291015693 0.00003
NM_153704.6(TMEM67):c.429A>T (p.Thr143=) rs917693730 0.00003
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00003
NM_153704.6(TMEM67):c.652-16A>G rs569346767 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=) rs373065772 0.00002
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=) rs767820112 0.00002
NM_153704.6(TMEM67):c.1860+19G>A rs373634556 0.00002
NM_153704.6(TMEM67):c.1961-20C>A rs150209047 0.00002
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) rs774835190 0.00002
NM_153704.6(TMEM67):c.237A>G (p.Val79=) rs772881100 0.00002
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=) rs771098362 0.00002
NM_153704.6(TMEM67):c.2907+14A>T rs760694612 0.00002
NM_153704.6(TMEM67):c.312+19A>T rs777205068 0.00002
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00002
NM_153704.6(TMEM67):c.979-15G>A rs536582676 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=) rs766110263 0.00001
NM_153704.6(TMEM67):c.1066-4G>A rs942758910 0.00001
NM_153704.6(TMEM67):c.1066-7G>T rs978443277 0.00001
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=) rs780053133 0.00001
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=) rs1315807334 0.00001
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=) rs1814042818 0.00001
NM_153704.6(TMEM67):c.1239G>T (p.Val413=) rs1356201430 0.00001
NM_153704.6(TMEM67):c.1289-19T>C rs745768246 0.00001
NM_153704.6(TMEM67):c.1289-20T>C rs1814088028 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1412+16A>G rs1814101036 0.00001
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=) rs1443190042 0.00001
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=) rs201483462 0.00001
NM_153704.6(TMEM67):c.1575+9A>G rs1207098688 0.00001
NM_153704.6(TMEM67):c.1576-9G>T rs760002634 0.00001
NM_153704.6(TMEM67):c.159G>A (p.Gln53=) rs998413541 0.00001
NM_153704.6(TMEM67):c.15T>G (p.Gly5=) rs767145640 0.00001
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=) rs1420559146 0.00001
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=) rs1814466283 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.1675-18C>T rs750708694 0.00001
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=) rs1179736560 0.00001
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=) rs774011311 0.00001
NM_153704.6(TMEM67):c.1773+14T>A rs1370201374 0.00001
NM_153704.6(TMEM67):c.1774-4A>G rs756164489 0.00001
NM_153704.6(TMEM67):c.1774-7A>T rs1814591745 0.00001
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=) rs756722828 0.00001
NM_153704.6(TMEM67):c.1860+17A>G rs746606881 0.00001
NM_153704.6(TMEM67):c.1860+8T>C rs1421096303 0.00001
NM_153704.6(TMEM67):c.1861-13A>G rs571446327 0.00001
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=) rs747282253 0.00001
NM_153704.6(TMEM67):c.1956T>G (p.Val652=) rs2130734693 0.00001
NM_153704.6(TMEM67):c.2101-8T>C rs544088620 0.00001
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=) rs1219890990 0.00001
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=) rs1814779643 0.00001
NM_153704.6(TMEM67):c.223+10T>G rs759862721 0.00001
NM_153704.6(TMEM67):c.223+15G>A rs369696315 0.00001
NM_153704.6(TMEM67):c.223+16G>C rs753224153 0.00001
NM_153704.6(TMEM67):c.223+9G>A rs1264088122 0.00001
NM_153704.6(TMEM67):c.224-11T>A rs1272537781 0.00001
NM_153704.6(TMEM67):c.224-7T>C rs946896414 0.00001
NM_153704.6(TMEM67):c.2241+12T>C rs1814787407 0.00001
NM_153704.6(TMEM67):c.2301T>G (p.Val767=) rs1234295532 0.00001
NM_153704.6(TMEM67):c.231A>G (p.Ser77=) rs769535902 0.00001
NM_153704.6(TMEM67):c.2322+7A>G rs1395856204 0.00001
NM_153704.6(TMEM67):c.2323-10C>T rs781307279 0.00001
NM_153704.6(TMEM67):c.2323-12C>A rs1007807232 0.00001
NM_153704.6(TMEM67):c.2370T>C (p.His790=) rs1475347154 0.00001
NM_153704.6(TMEM67):c.2439+8A>C rs778635188 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2440-7T>C rs1323389133 0.00001
NM_153704.6(TMEM67):c.2557-11T>C rs370652713 0.00001
NM_153704.6(TMEM67):c.2557-20A>G rs2536947017 0.00001
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=) rs1471491528 0.00001
NM_153704.6(TMEM67):c.2661+18T>G rs1223777360 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=) rs773700963 0.00001
NM_153704.6(TMEM67):c.2764+10A>T rs900677485 0.00001
NM_153704.6(TMEM67):c.2764+19T>C rs1448362320 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=) rs2536967528 0.00001
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=) rs745807071 0.00001
NM_153704.6(TMEM67):c.2907+15T>C rs1218036498 0.00001
NM_153704.6(TMEM67):c.2908-12T>C rs780091092 0.00001
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=) rs1007113948 0.00001
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=) rs762068518 0.00001
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=) rs1465302709 0.00001
NM_153704.6(TMEM67):c.330T>C (p.Asp110=) rs1403926619 0.00001
NM_153704.6(TMEM67):c.333C>T (p.Gly111=) rs768929156 0.00001
NM_153704.6(TMEM67):c.406+11G>T rs1032950384 0.00001
NM_153704.6(TMEM67):c.406+12A>T rs575499078 0.00001
NM_153704.6(TMEM67):c.506+9T>G rs1297987978 0.00001
NM_153704.6(TMEM67):c.507-10T>C rs1346338603 0.00001
NM_153704.6(TMEM67):c.507-9A>G rs200249869 0.00001
NM_153704.6(TMEM67):c.576+11C>A rs1813041509 0.00001
NM_153704.6(TMEM67):c.576+16T>C rs542209524 0.00001
NM_153704.6(TMEM67):c.576+17T>C rs367982641 0.00001
NM_153704.6(TMEM67):c.577-20T>C rs1355769464 0.00001
NM_153704.6(TMEM67):c.582G>A (p.Gly194=) rs1230815674 0.00001
NM_153704.6(TMEM67):c.651+12T>G rs1813051382 0.00001
NM_153704.6(TMEM67):c.651+15A>G rs752083723 0.00001
NM_153704.6(TMEM67):c.651+17T>G rs926157464 0.00001
NM_153704.6(TMEM67):c.651+20T>G rs767640779 0.00001
NM_153704.6(TMEM67):c.652-6T>C rs1282835643 0.00001
NM_153704.6(TMEM67):c.666T>A (p.Thr222=) rs565613699 0.00001
NM_153704.6(TMEM67):c.715-13T>C rs1297804564 0.00001
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=) rs2536841523 0.00001
NM_153704.6(TMEM67):c.783C>T (p.Asp261=) rs780748968 0.00001
NM_153704.6(TMEM67):c.79C>T (p.Leu27=) rs763698200 0.00001
NM_153704.6(TMEM67):c.840A>G (p.Gly280=) rs536761065 0.00001
NM_153704.6(TMEM67):c.869+11T>G rs759451327 0.00001
NM_153704.6(TMEM67):c.869+18G>C rs1461079741 0.00001
NM_153704.6(TMEM67):c.870-17G>C rs554004174 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.978+14A>G rs763993769 0.00001
NM_153704.6(TMEM67):c.990G>A (p.Leu330=) rs761599038 0.00001
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=) rs1178123059
NM_153704.6(TMEM67):c.1032C>T (p.Leu344=)
NM_153704.6(TMEM67):c.1041A>G (p.Gln347=)
NM_153704.6(TMEM67):c.1065+12T>A rs1292614487
NM_153704.6(TMEM67):c.1065+12T>G rs1292614487
NM_153704.6(TMEM67):c.1065+17T>G rs2130669162
NM_153704.6(TMEM67):c.1065+7A>G rs2536847337
NM_153704.6(TMEM67):c.1065+9G>A rs2536847348
NM_153704.6(TMEM67):c.1066-7G>A rs978443277
NM_153704.6(TMEM67):c.108C>G (p.Ala36=) rs2130522054
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=) rs758498141
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=) rs758498141
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=) rs2536850812
NM_153704.6(TMEM67):c.1131+16A>G rs2536851005
NM_153704.6(TMEM67):c.1131+9G>A rs1813883065
NM_153704.6(TMEM67):c.1132-14_1132-9del rs2130685786
NM_153704.6(TMEM67):c.1132-16T>C rs2536859809
NM_153704.6(TMEM67):c.1132-19T>G rs2536859768
NM_153704.6(TMEM67):c.114C>T (p.Thr38=) rs760103712
NM_153704.6(TMEM67):c.1227T>C (p.Tyr409=)
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=) rs2536860518
NM_153704.6(TMEM67):c.1239G>C (p.Val413=) rs1356201430
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=) rs2536860741
NM_153704.6(TMEM67):c.1288+10C>G rs2536860856
NM_153704.6(TMEM67):c.1288+14A>G rs1458179636
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1288+15del rs2536860922
NM_153704.6(TMEM67):c.1288+9T>A rs2536860850
NM_153704.6(TMEM67):c.1288+9T>C rs2536860850
NM_153704.6(TMEM67):c.1289-10A>G
NM_153704.6(TMEM67):c.1289-6T>C rs746707583
NM_153704.6(TMEM67):c.1289-8A>G rs1814088796
NM_153704.6(TMEM67):c.1289-8A>T rs1814088796
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=) rs2536864079
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=) rs1814090920
NM_153704.6(TMEM67):c.1363T>C (p.Leu455=)
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=) rs2536864460
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=) rs2536864526
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=) rs2536864594
NM_153704.6(TMEM67):c.1392T>C (p.Val464=)
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=) rs2536864683
NM_153704.6(TMEM67):c.1412+10T>C rs2536864806
NM_153704.6(TMEM67):c.1412+12T>C rs1347187013
NM_153704.6(TMEM67):c.1412+13C>T rs2536864820
NM_153704.6(TMEM67):c.1413-6A>G rs747459933
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=) rs1463171314
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=) rs1047816076
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=) rs2536869921
NM_153704.6(TMEM67):c.1518+15del rs1814190578
NM_153704.6(TMEM67):c.1518+20G>T rs2536870027
NM_153704.6(TMEM67):c.1519-14G>C rs1477028372
NM_153704.6(TMEM67):c.1539T>C (p.Tyr513=)
NM_153704.6(TMEM67):c.1572A>G (p.Thr524=)
NM_153704.6(TMEM67):c.1575+15A>G rs1263636426
NM_153704.6(TMEM67):c.1575+16C>T rs2130711471
NM_153704.6(TMEM67):c.1576-19T>C rs1292261895
NM_153704.6(TMEM67):c.1576-20A>G rs1397119713
NM_153704.6(TMEM67):c.1576-7T>C rs767939125
NM_153704.6(TMEM67):c.1576-7T>G rs767939125
NM_153704.6(TMEM67):c.1576-9G>C rs760002634
NM_153704.6(TMEM67):c.1591T>C (p.Leu531=)
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=) rs1178465539
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=) rs2536888263
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=) rs757285569
NM_153704.6(TMEM67):c.1609T>C (p.Leu537=)
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=) rs2536888419
NM_153704.6(TMEM67):c.1653G>T (p.Gly551=)
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=) rs2536888746
NM_153704.6(TMEM67):c.1674+12G>A rs1586063769
NM_153704.6(TMEM67):c.1674+17T>G rs2536888899
NM_153704.6(TMEM67):c.1674+8C>A
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1675-8A>T rs1343054398
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=) rs950429653
NM_153704.6(TMEM67):c.1740G>A (p.Val580=) rs973374114
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=) rs2536896914
NM_153704.6(TMEM67):c.1773+13C>T rs2536897118
NM_153704.6(TMEM67):c.1773+17A>G rs2536897127
NM_153704.6(TMEM67):c.177C>A (p.Ala59=) rs772188678
NM_153704.6(TMEM67):c.177C>T (p.Ala59=) rs772188678
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=) rs756722828
NM_153704.6(TMEM67):c.180C>T (p.Leu60=) rs780111733
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1830C>G (p.Val610=) rs774478797
NM_153704.6(TMEM67):c.1830C>T (p.Val610=) rs774478797
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=) rs2536899253
NM_153704.6(TMEM67):c.1860+10A>G rs2536899414
NM_153704.6(TMEM67):c.1860+14G>A rs369727716
NM_153704.6(TMEM67):c.1860+16C>G rs2536899453
NM_153704.6(TMEM67):c.1860+19G>T rs373634556
NM_153704.6(TMEM67):c.1861-16T>C rs948288540
NM_153704.6(TMEM67):c.1861-18A>G rs2536903066
NM_153704.6(TMEM67):c.18G>C (p.Gly6=) rs1812494244
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=) rs863225225
NM_153704.6(TMEM67):c.1914T>C (p.Phe638=)
NM_153704.6(TMEM67):c.1941G>A (p.Lys647=)
NM_153704.6(TMEM67):c.1960+9A>T rs1431911428
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=) rs2536904284
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2016T>C (p.Phe672=) rs1814670896
NM_153704.6(TMEM67):c.2100+11_2100+14del rs769252501
NM_153704.6(TMEM67):c.2100+13T>C rs2536904918
NM_153704.6(TMEM67):c.2101-10T>G rs1435643445
NM_153704.6(TMEM67):c.2101-13C>A rs1049924941
NM_153704.6(TMEM67):c.2101-13C>G rs1049924941
NM_153704.6(TMEM67):c.2101-14C>T rs934154309
NM_153704.6(TMEM67):c.2101-20A>C rs369488441
NM_153704.6(TMEM67):c.2101-20A>G rs369488441
NM_153704.6(TMEM67):c.2101-4C>T
NM_153704.6(TMEM67):c.2101-5T>C rs2536911973
NM_153704.6(TMEM67):c.2103T>G (p.Val701=) rs2536912016
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=) rs2536912366
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=) rs2536912393
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=) rs1814780896
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=) rs368159329
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=) rs1178440264
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=) rs1456669205
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=) rs1814783691
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=) rs2536912761
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=) rs2536912836
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=) rs2536912846
NM_153704.6(TMEM67):c.223+7C>T rs2536753634
NM_153704.6(TMEM67):c.224-13_224-3del rs587779735
NM_153704.6(TMEM67):c.224-17T>C rs2536756199
NM_153704.6(TMEM67):c.224-20T>C rs1413301366
NM_153704.6(TMEM67):c.224-4_224-3insA rs2536756283
NM_153704.6(TMEM67):c.224-9T>G rs2536756243
NM_153704.6(TMEM67):c.2241+19A>G rs2536913077
NM_153704.6(TMEM67):c.2242-14A>G rs1185588616
NM_153704.6(TMEM67):c.2242-18C>T
NM_153704.6(TMEM67):c.2242-8T>C rs1814962506
NM_153704.6(TMEM67):c.2242-9A>T rs775871153
NM_153704.6(TMEM67):c.2244C>T (p.Val748=) rs1001805885
NM_153704.6(TMEM67):c.2247G>C (p.Val749=) rs1814963450
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=) rs2536923730
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=) rs779886525
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=) rs2536923839
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=) rs2536923873
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=) rs372104198
NM_153704.6(TMEM67):c.231A>T (p.Ser77=) rs769535902
NM_153704.6(TMEM67):c.2322+11T>C rs2536924176
NM_153704.6(TMEM67):c.2322+11dup rs761531825
NM_153704.6(TMEM67):c.2322+17T>C rs775897167
NM_153704.6(TMEM67):c.2322+18T>G rs2536924217
NM_153704.6(TMEM67):c.2322+20A>G rs2536924231
NM_153704.6(TMEM67):c.2323-10C>G rs781307279
NM_153704.6(TMEM67):c.2323-4A>G rs2536929294
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=) rs768944560
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=) rs768944560
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=) rs2130763777
NM_153704.6(TMEM67):c.237A>T (p.Val79=) rs772881100
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2439+19del rs1563478194
NM_153704.6(TMEM67):c.2439+9A>G rs2130764128
NM_153704.6(TMEM67):c.243A>C (p.Leu81=) rs2536756623
NM_153704.6(TMEM67):c.2440-10_2440-6del
NM_153704.6(TMEM67):c.2440-13T>C rs1808572674
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=) rs2536945857
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=) rs1808573447
NM_153704.6(TMEM67):c.2446T>C (p.Leu816=)
NM_153704.6(TMEM67):c.246A>G (p.Pro82=) rs775763871
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=) rs2536946131
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=) rs2536946174
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=) rs781586067
NM_153704.6(TMEM67):c.2508T>G (p.Ser836=)
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=) rs2536946450
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=) rs2536946507
NM_153704.6(TMEM67):c.2557-11_2557-3dup
NM_153704.6(TMEM67):c.2557-16C>G rs2130781103
NM_153704.6(TMEM67):c.2557-5A>G rs772215031
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=) rs2536947153
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=) rs375291384
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=) rs1469398118
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=) rs1469398118
NM_153704.6(TMEM67):c.2625T>C (p.His875=) rs2536947429
NM_153704.6(TMEM67):c.2661+14del rs2536947733
NM_153704.6(TMEM67):c.2661+17T>A rs2130781754
NM_153704.6(TMEM67):c.2662-16T>C rs2536949444
NM_153704.6(TMEM67):c.2662-6T>A rs1352699632
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=) rs2536949551
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=) rs2536949736
NM_153704.6(TMEM67):c.2709A>G (p.Glu903=)
NM_153704.6(TMEM67):c.270T>C (p.Asn90=) rs764492426
NM_153704.6(TMEM67):c.273A>C (p.Gly91=) rs1812547054
NM_153704.6(TMEM67):c.2764+7T>C
NM_153704.6(TMEM67):c.2765-5A>G rs1808862357
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=) rs760403200
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=) rs2536967286
NM_153704.6(TMEM67):c.2790C>T (p.Val930=) rs767620101
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=) rs2536967499
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=) rs777590979
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=) rs2536967697
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=) rs745807071
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=) rs2536967866
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=) rs2536968022
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=) rs2536968078
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=) rs1428039430
NM_153704.6(TMEM67):c.2908-10A>C rs1371332976
NM_153704.6(TMEM67):c.2908-15G>T rs2536971201
NM_153704.6(TMEM67):c.2908-20G>T rs2130802403
NM_153704.6(TMEM67):c.2931A>G (p.Thr977=)
NM_153704.6(TMEM67):c.2934A>G (p.Val978=) rs760007075
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=) rs2536971556
NM_153704.6(TMEM67):c.312+15T>G rs2536757061
NM_153704.6(TMEM67):c.313-12C>G rs1268057428
NM_153704.6(TMEM67):c.313-12C>T rs1268057428
NM_153704.6(TMEM67):c.318T>C (p.Gly106=) rs1812680947
NM_153704.6(TMEM67):c.333C>G (p.Gly111=) rs768929156
NM_153704.6(TMEM67):c.360C>T (p.Asp120=) rs2536765698
NM_153704.6(TMEM67):c.36G>A (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.36G>C (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.39T>G (p.Val13=) rs2536752381
NM_153704.6(TMEM67):c.406+17T>A rs1812686194
NM_153704.6(TMEM67):c.406+18T>C rs2536766138
NM_153704.6(TMEM67):c.406+19A>G
NM_153704.6(TMEM67):c.406+7A>C rs2536766078
NM_153704.6(TMEM67):c.407-19T>C rs2536784264
NM_153704.6(TMEM67):c.407-6G>C rs1271174081
NM_153704.6(TMEM67):c.408G>T (p.Val136=) rs2536784387
NM_153704.6(TMEM67):c.423T>C (p.Asn141=) rs2536784455
NM_153704.6(TMEM67):c.444A>G (p.Ala148=)
NM_153704.6(TMEM67):c.45C>T (p.Ser15=) rs745667937
NM_153704.6(TMEM67):c.471A>G (p.Glu157=) rs1812962110
NM_153704.6(TMEM67):c.48C>T (p.Leu16=) rs1167084529
NM_153704.6(TMEM67):c.506+10G>A rs2536785005
NM_153704.6(TMEM67):c.506+13A>T rs2130577066
NM_153704.6(TMEM67):c.506+17G>C rs765210487
NM_153704.6(TMEM67):c.507-11A>G rs1813035747
NM_153704.6(TMEM67):c.507-14G>T rs773235020
NM_153704.6(TMEM67):c.507-16T>G rs367547273
NM_153704.6(TMEM67):c.522G>A (p.Glu174=) rs2536790126
NM_153704.6(TMEM67):c.537T>C (p.Asn179=)
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
NM_153704.6(TMEM67):c.576+14A>G
NM_153704.6(TMEM67):c.576+19A>C
NM_153704.6(TMEM67):c.576+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C rs2536790781
NM_153704.6(TMEM67):c.577-12T>A rs2536790751
NM_153704.6(TMEM67):c.577-4del rs2536790843
NM_153704.6(TMEM67):c.577-8T>C rs2536790794
NM_153704.6(TMEM67):c.57C>A (p.Ala19=) rs749429162
NM_153704.6(TMEM67):c.594C>T (p.Phe198=) rs149290663
NM_153704.6(TMEM67):c.60G>A (p.Arg20=)
NM_153704.6(TMEM67):c.618A>G (p.Leu206=)
NM_153704.6(TMEM67):c.651+17T>C rs926157464
NM_153704.6(TMEM67):c.651+18T>C rs1813052394
NM_153704.6(TMEM67):c.651+19T>C rs2536791440
NM_153704.6(TMEM67):c.652-14C>A
NM_153704.6(TMEM67):c.652-18G>A rs1198930533
NM_153704.6(TMEM67):c.652-8G>T rs2536813043
NM_153704.6(TMEM67):c.654C>G (p.Gly218=) rs747750770
NM_153704.6(TMEM67):c.654C>T (p.Gly218=) rs747750770
NM_153704.6(TMEM67):c.66G>A (p.Val22=) rs1211790786
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=) rs2536813302
NM_153704.6(TMEM67):c.69C>G (p.Thr23=) rs745801674
NM_153704.6(TMEM67):c.705T>C (p.Ala235=)
NM_153704.6(TMEM67):c.708A>G (p.Ala236=) rs2536813488
NM_153704.6(TMEM67):c.714+11A>G rs2536813623
NM_153704.6(TMEM67):c.714+14T>C rs935172963
NM_153704.6(TMEM67):c.714+7T>C rs2130622573
NM_153704.6(TMEM67):c.715-12G>A rs1237314532
NM_153704.6(TMEM67):c.715-12G>T rs1237314532
NM_153704.6(TMEM67):c.715-4G>C rs560467218
NM_153704.6(TMEM67):c.715-8T>C rs2536841456
NM_153704.6(TMEM67):c.741A>G (p.Gln247=) rs764081163
NM_153704.6(TMEM67):c.744T>C (p.Ala248=) rs2536841656
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=) rs933661498
NM_153704.6(TMEM67):c.801A>G (p.Ala267=) rs1479800199
NM_153704.6(TMEM67):c.810A>G (p.Leu270=) rs1237397798
NM_153704.6(TMEM67):c.840A>C (p.Gly280=) rs536761065
NM_153704.6(TMEM67):c.846C>T (p.Ser282=) rs1813782763
NM_153704.6(TMEM67):c.849T>G (p.Thr283=) rs769190569
NM_153704.6(TMEM67):c.864A>G (p.Ser288=)
NM_153704.6(TMEM67):c.869+17T>C rs767408748
NM_153704.6(TMEM67):c.869+17T>G rs767408748
NM_153704.6(TMEM67):c.870-16T>C rs2536842757
NM_153704.6(TMEM67):c.870-18A>T
NM_153704.6(TMEM67):c.870-8G>A rs2536842814
NM_153704.6(TMEM67):c.871A>C (p.Arg291=)
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=) rs753372724
NM_153704.6(TMEM67):c.90C>T (p.Leu30=)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=) rs781645408
NM_153704.6(TMEM67):c.972A>G (p.Glu324=) rs2130664789
NM_153704.6(TMEM67):c.978+12T>C rs2130664875
NM_153704.6(TMEM67):c.978+14_978+22del
NM_153704.6(TMEM67):c.978+17T>C rs1419647098
NM_153704.6(TMEM67):c.979-18C>T rs1452204629
NM_153704.6(TMEM67):c.99C>T (p.Phe33=) rs1812502098
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361

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