ClinVar Miner

List of variants in gene TMEM67 reported as likely benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 429
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00071
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803 0.00028
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00016
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile) rs561584664 0.00015
NM_153704.6(TMEM67):c.1131+19A>C rs747877982 0.00014
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_153704.6(TMEM67):c.978+19A>G rs575288126 0.00009
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.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.69C>T (p.Thr23=) rs745801674 0.00007
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.869+17T>A rs767408748 0.00006
NM_153704.6(TMEM67):c.870-17G>C rs554004174 0.00006
NM_153704.6(TMEM67):c.1860+14G>T rs369727716 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 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.1773+10T>C rs371485093 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.1412+18G>T rs771301847 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.2448G>A (p.Leu816=) rs886038738 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.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.237A>G (p.Val79=) rs772881100 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.312+19A>T rs777205068 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.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.1576-9G>T rs760002634 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 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.2199T>C (p.Tyr733=) rs774835190 0.00001
NM_153704.6(TMEM67):c.223+9G>A rs1264088122 0.00001
NM_153704.6(TMEM67):c.231A>G (p.Ser77=) rs769535902 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.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2557-11T>C rs370652713 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=) rs777590979 0.00001
NM_153704.6(TMEM67):c.2907+15T>C rs1218036498 0.00001
NM_153704.6(TMEM67):c.582G>A (p.Gly194=) rs1230815674 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.780C>T (p.Tyr260=) rs966581270 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.869+11T>G rs759451327 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)
NM_153704.6(TMEM67):c.1065+12T>A
NM_153704.6(TMEM67):c.1065+12T>G
NM_153704.6(TMEM67):c.1065+17T>G rs2130669162
NM_153704.6(TMEM67):c.1065+7A>G
NM_153704.6(TMEM67):c.1065+9G>A
NM_153704.6(TMEM67):c.1066-16T>C
NM_153704.6(TMEM67):c.1066-4G>A
NM_153704.6(TMEM67):c.1066-7G>A rs978443277
NM_153704.6(TMEM67):c.1066-7G>T
NM_153704.6(TMEM67):c.108C>G (p.Ala36=) rs2130522054
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=)
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)
NM_153704.6(TMEM67):c.1131+12C>T
NM_153704.6(TMEM67):c.1131+13G>A
NM_153704.6(TMEM67):c.1131+16A>G
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
NM_153704.6(TMEM67):c.1132-19T>G
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=)
NM_153704.6(TMEM67):c.114C>T (p.Thr38=)
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=) rs1814042818
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)
NM_153704.6(TMEM67):c.1239G>C (p.Val413=)
NM_153704.6(TMEM67):c.1239G>T (p.Val413=)
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=)
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)
NM_153704.6(TMEM67):c.1288+10C>G
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
NM_153704.6(TMEM67):c.1288+9T>A
NM_153704.6(TMEM67):c.1288+9T>C
NM_153704.6(TMEM67):c.1289-19T>C
NM_153704.6(TMEM67):c.1289-20T>C
NM_153704.6(TMEM67):c.1289-6T>C rs746707583
NM_153704.6(TMEM67):c.1289-8A>G
NM_153704.6(TMEM67):c.1289-8A>T
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=)
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=)
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=) rs1814090920
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)
NM_153704.6(TMEM67):c.1412+10T>C
NM_153704.6(TMEM67):c.1412+12T>C
NM_153704.6(TMEM67):c.1412+13C>T
NM_153704.6(TMEM67):c.1412+16A>G
NM_153704.6(TMEM67):c.1413-6A>G
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)
NM_153704.6(TMEM67):c.1518+15del
NM_153704.6(TMEM67):c.1518+20G>T
NM_153704.6(TMEM67):c.1519-14G>C
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)
NM_153704.6(TMEM67):c.1575+15A>G
NM_153704.6(TMEM67):c.1575+16C>T rs2130711471
NM_153704.6(TMEM67):c.1575+9A>G
NM_153704.6(TMEM67):c.1576-10T>C
NM_153704.6(TMEM67):c.1576-19T>C
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
NM_153704.6(TMEM67):c.1576-9G>C
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=)
NM_153704.6(TMEM67):c.159G>A (p.Gln53=)
NM_153704.6(TMEM67):c.15T>G (p.Gly5=)
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=)
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=)
NM_153704.6(TMEM67):c.1674+12G>A
NM_153704.6(TMEM67):c.1674+17T>G
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1675-18C>T
NM_153704.6(TMEM67):c.1675-8A>T
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=) rs950429653
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)
NM_153704.6(TMEM67):c.1740G>A (p.Val580=)
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=)
NM_153704.6(TMEM67):c.174C>T (p.Ser58=)
NM_153704.6(TMEM67):c.1773+13C>T
NM_153704.6(TMEM67):c.1773+17A>G
NM_153704.6(TMEM67):c.1774-19C>G
NM_153704.6(TMEM67):c.1774-4A>G
NM_153704.6(TMEM67):c.1774-7A>T
NM_153704.6(TMEM67):c.177C>A (p.Ala59=)
NM_153704.6(TMEM67):c.177C>T (p.Ala59=)
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)
NM_153704.6(TMEM67):c.180C>T (p.Leu60=)
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1830C>G (p.Val610=)
NM_153704.6(TMEM67):c.1830C>T (p.Val610=)
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=)
NM_153704.6(TMEM67):c.1860+10A>G
NM_153704.6(TMEM67):c.1860+14G>A
NM_153704.6(TMEM67):c.1860+16C>G
NM_153704.6(TMEM67):c.1860+17A>G
NM_153704.6(TMEM67):c.1860+19G>T rs373634556
NM_153704.6(TMEM67):c.1860+8T>C
NM_153704.6(TMEM67):c.1861-13A>G
NM_153704.6(TMEM67):c.1861-16T>C
NM_153704.6(TMEM67):c.1861-18A>G
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.1926G>A (p.Glu642=)
NM_153704.6(TMEM67):c.1956T>G (p.Val652=) rs2130734693
NM_153704.6(TMEM67):c.1960+9A>T
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2100+11_2100+14del
NM_153704.6(TMEM67):c.2100+13T>C
NM_153704.6(TMEM67):c.2101-10T>G
NM_153704.6(TMEM67):c.2101-13C>A
NM_153704.6(TMEM67):c.2101-13C>G
NM_153704.6(TMEM67):c.2101-14C>T
NM_153704.6(TMEM67):c.2101-20A>C rs369488441
NM_153704.6(TMEM67):c.2101-20A>G
NM_153704.6(TMEM67):c.2101-5T>C
NM_153704.6(TMEM67):c.2101-8T>C
NM_153704.6(TMEM67):c.2103T>G (p.Val701=)
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=)
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=)
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=)
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=)
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=)
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=)
NM_153704.6(TMEM67):c.223+10T>G
NM_153704.6(TMEM67):c.223+13G>C
NM_153704.6(TMEM67):c.223+15G>A
NM_153704.6(TMEM67):c.223+16G>C
NM_153704.6(TMEM67):c.223+7C>T
NM_153704.6(TMEM67):c.224-11T>A
NM_153704.6(TMEM67):c.224-13_224-3del
NM_153704.6(TMEM67):c.224-17T>C
NM_153704.6(TMEM67):c.224-20T>C
NM_153704.6(TMEM67):c.224-4_224-3insA
NM_153704.6(TMEM67):c.224-7T>C
NM_153704.6(TMEM67):c.224-9T>G
NM_153704.6(TMEM67):c.2241+12T>C
NM_153704.6(TMEM67):c.2241+19A>G
NM_153704.6(TMEM67):c.2242-14A>G
NM_153704.6(TMEM67):c.2242-8T>C
NM_153704.6(TMEM67):c.2242-9A>T
NM_153704.6(TMEM67):c.2244C>T (p.Val748=)
NM_153704.6(TMEM67):c.2247G>C (p.Val749=)
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=)
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=)
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=)
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=) rs372104198
NM_153704.6(TMEM67):c.2301T>G (p.Val767=)
NM_153704.6(TMEM67):c.231A>T (p.Ser77=)
NM_153704.6(TMEM67):c.2322+11T>C
NM_153704.6(TMEM67):c.2322+11dup rs761531825
NM_153704.6(TMEM67):c.2322+17T>C
NM_153704.6(TMEM67):c.2322+18T>G
NM_153704.6(TMEM67):c.2322+20A>G
NM_153704.6(TMEM67):c.2322+7A>G
NM_153704.6(TMEM67):c.2323-10C>G
NM_153704.6(TMEM67):c.2323-10C>T
NM_153704.6(TMEM67):c.2323-4A>G
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=) rs2130763777
NM_153704.6(TMEM67):c.237A>T (p.Val79=)
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)
NM_153704.6(TMEM67):c.2439+19del
NM_153704.6(TMEM67):c.2439+8A>C
NM_153704.6(TMEM67):c.2439+9A>G rs2130764128
NM_153704.6(TMEM67):c.243A>C (p.Leu81=)
NM_153704.6(TMEM67):c.2440-13T>C
NM_153704.6(TMEM67):c.2440-7T>C
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)
NM_153704.6(TMEM67):c.246A>G (p.Pro82=)
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=)
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=)
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=)
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=)
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=)
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)
NM_153704.6(TMEM67):c.2557-16C>G rs2130781103
NM_153704.6(TMEM67):c.2557-20A>G
NM_153704.6(TMEM67):c.2557-5A>G
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=)
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=)
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=)
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=)
NM_153704.6(TMEM67):c.2625T>C (p.His875=)
NM_153704.6(TMEM67):c.2661+14del
NM_153704.6(TMEM67):c.2661+17T>A rs2130781754
NM_153704.6(TMEM67):c.2661+18T>G
NM_153704.6(TMEM67):c.2662-16T>C
NM_153704.6(TMEM67):c.2662-6T>A
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)
NM_153704.6(TMEM67):c.270T>C (p.Asn90=)
NM_153704.6(TMEM67):c.273A>C (p.Gly91=)
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.2764+19T>C
NM_153704.6(TMEM67):c.2765-5A>G rs1808862357
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)
NM_153704.6(TMEM67):c.2790C>T (p.Val930=) rs767620101
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=)
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=)
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=) rs745807071
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=)
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=)
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=)
NM_153704.6(TMEM67):c.2907+14A>T
NM_153704.6(TMEM67):c.2908-10A>C
NM_153704.6(TMEM67):c.2908-12T>C
NM_153704.6(TMEM67):c.2908-15G>T
NM_153704.6(TMEM67):c.2908-20G>T rs2130802403
NM_153704.6(TMEM67):c.2934A>G (p.Val978=)
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=)
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=)
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=)
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)
NM_153704.6(TMEM67):c.312+15T>G
NM_153704.6(TMEM67):c.313-12C>G
NM_153704.6(TMEM67):c.313-12C>T
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.318T>C (p.Gly106=) rs1812680947
NM_153704.6(TMEM67):c.330T>C (p.Asp110=)
NM_153704.6(TMEM67):c.333C>G (p.Gly111=)
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_153704.6(TMEM67):c.360C>T (p.Asp120=)
NM_153704.6(TMEM67):c.36G>A (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.36G>C (p.Ala12=)
NM_153704.6(TMEM67):c.390C>T (p.Pro130=)
NM_153704.6(TMEM67):c.39T>G (p.Val13=)
NM_153704.6(TMEM67):c.406+11G>T
NM_153704.6(TMEM67):c.406+12A>T rs575499078
NM_153704.6(TMEM67):c.406+17T>A
NM_153704.6(TMEM67):c.406+18T>C
NM_153704.6(TMEM67):c.406+7A>C
NM_153704.6(TMEM67):c.407-19T>C
NM_153704.6(TMEM67):c.407-6G>C rs1271174081
NM_153704.6(TMEM67):c.408G>T (p.Val136=)
NM_153704.6(TMEM67):c.423T>C (p.Asn141=)
NM_153704.6(TMEM67):c.429A>T (p.Thr143=)
NM_153704.6(TMEM67):c.45C>T (p.Ser15=)
NM_153704.6(TMEM67):c.471A>G (p.Glu157=) rs1812962110
NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
NM_153704.6(TMEM67):c.506+10G>A
NM_153704.6(TMEM67):c.506+13A>T rs2130577066
NM_153704.6(TMEM67):c.506+17G>C
NM_153704.6(TMEM67):c.506+9T>G
NM_153704.6(TMEM67):c.507-10T>C
NM_153704.6(TMEM67):c.507-11A>G
NM_153704.6(TMEM67):c.507-14G>T
NM_153704.6(TMEM67):c.507-16T>G
NM_153704.6(TMEM67):c.507-9A>G
NM_153704.6(TMEM67):c.522G>A (p.Glu174=)
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
NM_153704.6(TMEM67):c.576+11C>A
NM_153704.6(TMEM67):c.576+16T>C
NM_153704.6(TMEM67):c.576+17T>C
NM_153704.6(TMEM67):c.576+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C
NM_153704.6(TMEM67):c.577-20T>C
NM_153704.6(TMEM67):c.577-4del
NM_153704.6(TMEM67):c.577-8T>C
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.651+12T>G
NM_153704.6(TMEM67):c.651+15A>G
NM_153704.6(TMEM67):c.651+17T>C rs926157464
NM_153704.6(TMEM67):c.651+17T>G rs926157464
NM_153704.6(TMEM67):c.651+18T>C
NM_153704.6(TMEM67):c.651+19T>C
NM_153704.6(TMEM67):c.652-18G>A rs1198930533
NM_153704.6(TMEM67):c.652-8G>T
NM_153704.6(TMEM67):c.654C>G (p.Gly218=)
NM_153704.6(TMEM67):c.654C>T (p.Gly218=)
NM_153704.6(TMEM67):c.666T>A (p.Thr222=)
NM_153704.6(TMEM67):c.66G>A (p.Val22=)
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)
NM_153704.6(TMEM67):c.69C>G (p.Thr23=)
NM_153704.6(TMEM67):c.708A>G (p.Ala236=)
NM_153704.6(TMEM67):c.714+11A>G
NM_153704.6(TMEM67):c.714+14T>C
NM_153704.6(TMEM67):c.714+7T>C rs2130622573
NM_153704.6(TMEM67):c.715-12G>A
NM_153704.6(TMEM67):c.715-12G>T
NM_153704.6(TMEM67):c.715-13T>C
NM_153704.6(TMEM67):c.715-4G>C rs560467218
NM_153704.6(TMEM67):c.715-8T>C
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)
NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
NM_153704.6(TMEM67):c.840A>C (p.Gly280=)
NM_153704.6(TMEM67):c.840A>G (p.Gly280=)
NM_153704.6(TMEM67):c.846C>T (p.Ser282=) rs1813782763
NM_153704.6(TMEM67):c.849T>G (p.Thr283=)
NM_153704.6(TMEM67):c.869+17T>C
NM_153704.6(TMEM67):c.869+17T>G
NM_153704.6(TMEM67):c.869+18G>C
NM_153704.6(TMEM67):c.870-16T>C
NM_153704.6(TMEM67):c.870-8G>A
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
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+14A>G
NM_153704.6(TMEM67):c.978+17T>C
NM_153704.6(TMEM67):c.979-15G>A
NM_153704.6(TMEM67):c.979-18C>T
NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
NM_153704.6(TMEM67):c.99C>T (p.Phe33=)
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361

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