ClinVar Miner

List of variants in gene TMEM67 studied for Meckel syndrome, type 1

Included ClinVar conditions (6):
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Total variants: 63
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HGVS dbSNP
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1431+5A>T rs863224813
NM_001142301.1(TMEM67):c.1531-6_1531-3inv
NM_001142301.1(TMEM67):c.1718-7T>A rs1563472215
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.6(TMEM67):c.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs) rs1586051330
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr) rs1328212583
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.6(TMEM67):c.2440-6T>C rs532418578
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe) rs1586091861
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu)
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr)
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg)
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu) rs1563679408
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu)
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr)
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) rs864622335
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594

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