ClinVar Miner

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

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NM_153704.5(TMEM67):c.*1434T>C rs886063178
NM_153704.5(TMEM67):c.*1653G>A rs544858713
NM_153704.5(TMEM67):c.*179T>C rs886063174
NM_153704.5(TMEM67):c.*218T>C rs886063175
NM_153704.5(TMEM67):c.*300G>A rs886063176
NM_153704.5(TMEM67):c.*852C>T rs114214029
NM_153704.5(TMEM67):c.*853G>A rs191740525
NM_153704.5(TMEM67):c.*941T>C rs112317911
NM_153704.5(TMEM67):c.*942G>A rs886063177
NM_153704.5(TMEM67):c.-33del rs145334032
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1066-3C>T rs3097427
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.5(TMEM67):c.1318C>T (p.Arg440Trp)
NM_153704.5(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.5(TMEM67):c.1373dup (p.Pro459fs)
NM_153704.5(TMEM67):c.1379G>C (p.Arg460Thr)
NM_153704.5(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803
NM_153704.5(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.5(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.5(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617
NM_153704.5(TMEM67):c.1674+5A>T rs863224813
NM_153704.5(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.5(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.5(TMEM67):c.1774-6_1774-3delinsATAA rs1554556213
NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.1961-7T>A rs1563472215
NM_153704.5(TMEM67):c.2128A>G (p.Met710Val)
NM_153704.5(TMEM67):c.2237T>C (p.Ile746Thr)
NM_153704.5(TMEM67):c.224G>A (p.Gly75Glu) rs780823805
NM_153704.5(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.5(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.5(TMEM67):c.2351G>A (p.Cys784Tyr)
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.5(TMEM67):c.2448G>A (p.Leu816=) rs886038738
NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.5(TMEM67):c.2556+4T>G rs772449181
NM_153704.5(TMEM67):c.2556+5G>C rs886063172
NM_153704.5(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.5(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.5(TMEM67):c.2662G>T (p.Val888Phe)
NM_153704.5(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.5(TMEM67):c.2924G>A (p.Arg975His) rs191759530
NM_153704.5(TMEM67):c.2928T>C (p.Asn976=) rs369812327
NM_153704.5(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.5(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173
NM_153704.5(TMEM67):c.29C>T (p.Ala10Val) rs146838062
NM_153704.5(TMEM67):c.443C>A (p.Ala148Glu) rs1563679408
NM_153704.5(TMEM67):c.511G>A (p.Val171Ile) rs200329273
NM_153704.5(TMEM67):c.514C>T (p.Arg172Ter) rs765468645
NM_153704.5(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.5(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.5(TMEM67):c.638G>A (p.Arg213His) rs770605718
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_153704.5(TMEM67):c.748G>A (p.Gly250Arg) rs587779736
NM_153704.5(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.5(TMEM67):c.781G>A (p.Asp261Asn) rs35793208
NM_153704.5(TMEM67):c.869+9A>G rs372597584
NM_153704.5(TMEM67):c.934T>C (p.Ser312Pro) rs864622335

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