List of variants in gene TMEM67 reported as pathogenic for Meckel syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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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.(?_94777614)_(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
NC_000008.10:g.(?_94827513)_(94827695_?)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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