ClinVar Miner

List of variants in gene TMEM67 reported as uncertain significance for CEP290-related ciliopathy

Included ClinVar conditions (17):
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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00016
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
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.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 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.1033A>G (p.Lys345Glu) rs764304394 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.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
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.2783G>A (p.Ser928Asn) rs538380011 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr) rs377160954 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.2314A>G (p.Met772Val) rs777291564 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His) rs386834183 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.1734C>T (p.Ile578=) rs774011311 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.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala) rs199549673 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 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.1085C>A (p.Thr362Lys)
NM_153704.6(TMEM67):c.1234G>C (p.Ala412Pro)
NM_153704.6(TMEM67):c.1241C>G (p.Pro414Arg)
NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)
NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)
NM_153704.6(TMEM67):c.1289-7A>G
NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.1414G>A (p.Val472Ile)
NM_153704.6(TMEM67):c.1489A>C (p.Ile497Leu)
NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1513G>C (p.Val505Leu)
NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr) rs1329676384
NM_153704.6(TMEM67):c.1737A>G (p.Thr579=)
NM_153704.6(TMEM67):c.1773+7_1773+10dup
NM_153704.6(TMEM67):c.1774G>T (p.Ala592Ser)
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)
NM_153704.6(TMEM67):c.1900A>G (p.Ile634Val)
NM_153704.6(TMEM67):c.1903G>A (p.Asp635Asn)
NM_153704.6(TMEM67):c.190C>T (p.Pro64Ser)
NM_153704.6(TMEM67):c.1940A>G (p.Lys647Arg)
NM_153704.6(TMEM67):c.1942G>T (p.Val648Phe)
NM_153704.6(TMEM67):c.1954G>C (p.Val652Leu)
NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)
NM_153704.6(TMEM67):c.2184C>A (p.Ser728Arg)
NM_153704.6(TMEM67):c.2193G>C (p.Leu731Phe)
NM_153704.6(TMEM67):c.2197T>C (p.Tyr733His)
NM_153704.6(TMEM67):c.223+4A>G
NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)
NM_153704.6(TMEM67):c.2325A>G (p.Ile775Met) rs777320782
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2424C>G (p.Asn808Lys)
NM_153704.6(TMEM67):c.2437G>T (p.Ala813Ser)
NM_153704.6(TMEM67):c.2447T>C (p.Leu816Ser)
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.2474A>G (p.Asn825Ser)
NM_153704.6(TMEM67):c.2525A>G (p.His842Arg)
NM_153704.6(TMEM67):c.2553A>G (p.Ile851Met)
NM_153704.6(TMEM67):c.2556+5G>T
NM_153704.6(TMEM67):c.2611A>G (p.Ile871Val)
NM_153704.6(TMEM67):c.2633A>G (p.Asn878Ser)
NM_153704.6(TMEM67):c.2644G>C (p.Gly882Arg)
NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn) rs1170985091
NM_153704.6(TMEM67):c.2783G>C (p.Ser928Thr)
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys) rs863225233
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser) rs537935631
NM_153704.6(TMEM67):c.2959del (p.Thr987fs)
NM_153704.6(TMEM67):c.316G>A (p.Gly106Ser)
NM_153704.6(TMEM67):c.363A>C (p.Leu121Phe)
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
NM_153704.6(TMEM67):c.406+12A>T rs575499078
NM_153704.6(TMEM67):c.407-8C>G rs778605297
NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153704.6(TMEM67):c.746T>C (p.Leu249Pro)
NM_153704.6(TMEM67):c.773A>G (p.Asn258Ser)
NM_153704.6(TMEM67):c.838G>C (p.Gly280Arg)
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.856T>C (p.Ser286Pro)
NM_153704.6(TMEM67):c.870-11del
NM_153704.6(TMEM67):c.906G>C (p.Gln302His)
NM_153704.6(TMEM67):c.929T>A (p.Leu310His)
NM_153704.6(TMEM67):c.983C>G (p.Thr328Arg)

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