ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter) rs115195998 0.00002
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118 0.00001
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409 0.00001
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter) rs1258492758 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.2345A>G (p.His782Arg) rs777137476 0.00001
NM_153704.6(TMEM67):c.2439+5G>C rs756686115 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter) rs386834201 0.00001
NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter) rs745935752 0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408 0.00001
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) rs386834205 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NC_000008.10:g.(?_94770691)_(94777894_?)del
NC_000008.10:g.(?_94797471)_(94808642_?)del
NC_000008.10:g.(?_94808184)_(94818223_?)del
NC_000008.10:g.(?_94821048)_(94821409_?)del
NC_000008.10:g.(?_94821048)_(94822135_?)del
NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro) rs137853106
NM_153704.6(TMEM67):c.1130del (p.Asn377fs)
NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter)
NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)
NM_153704.6(TMEM67):c.1338_1350del (p.Ala447fs) rs2130690833
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs) rs1586051330
NM_153704.6(TMEM67):c.1413-1G>A
NM_153704.6(TMEM67):c.1413-1G>C rs386834185
NM_153704.6(TMEM67):c.1519-1G>A
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.1576-1G>A
NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)
NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs)
NM_153704.6(TMEM67):c.1621_1622del (p.Leu541fs)
NM_153704.6(TMEM67):c.1638G>A (p.Trp546Ter) rs2130719312
NM_153704.6(TMEM67):c.1638del (p.Gly545_Trp546insTer) rs2130719298
NM_153704.6(TMEM67):c.1704dup (p.Gly569fs)
NM_153704.6(TMEM67):c.1730_1733del (p.Ile577fs)
NM_153704.6(TMEM67):c.1788_1789del (p.Ser597fs)
NM_153704.6(TMEM67):c.1833_1834del (p.Tyr612fs)
NM_153704.6(TMEM67):c.1942_1951del (p.Val648fs)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.1968_1969del (p.Gly657fs)
NM_153704.6(TMEM67):c.1987_1988del (p.Val663fs)
NM_153704.6(TMEM67):c.2069_2070del (p.Phe690fs)
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2087T>C (p.Leu696Pro) rs2130735817
NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro) rs149475825
NM_153704.6(TMEM67):c.2163del (p.Ser722fs)
NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter)
NM_153704.6(TMEM67):c.224-2A>T rs768412278
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.6(TMEM67):c.2302dup (p.Asp768fs)
NM_153704.6(TMEM67):c.2306del (p.Leu769fs) rs2130757733
NM_153704.6(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr) rs748937483
NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala)
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr) rs1563673490
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_153704.6(TMEM67):c.242_245del (p.Leu81fs)
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)
NM_153704.6(TMEM67):c.2556+1G>A
NM_153704.6(TMEM67):c.267_294del (p.Asn89fs)
NM_153704.6(TMEM67):c.2754_2756del (p.Phe919del) rs786205126
NM_153704.6(TMEM67):c.312+2T>G rs2130528812
NM_153704.6(TMEM67):c.322dup (p.Thr108fs)
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.459_460del (p.Cys153_Asp154delinsTer)
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro) rs775716868
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.683_689del (p.Lys228fs) rs2130622403
NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter) rs1038920023
NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter)
NM_153704.6(TMEM67):c.870-2A>G rs386834207
NM_153704.6(TMEM67):c.877_880del (p.Asn293fs)
NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter) rs2130664400
NM_153704.6(TMEM67):c.996_1014del (p.Phe332fs) rs2130668581

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