ClinVar Miner

List of variants in gene TMEM67 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_153704.6(TMEM67):c.406+1361C>T rs73324992 0.04251
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_153704.6(TMEM67):c.870-29A>G rs116802062 0.01936
NM_153704.6(TMEM67):c.1288+46C>T rs73694952 0.01390
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_153704.6(TMEM67):c.1774-45A>C rs73694960 0.00769
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 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.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.2764+2T>A rs1293481687 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.224-4_224-3del rs587779735
NM_153704.6(TMEM67):c.271G>A (p.Gly91Arg) rs797046043
NM_153704.6(TMEM67):c.2806G>A (p.Glu936Lys) rs797046044
NM_153704.6(TMEM67):c.2900A>C (p.Gln967Pro) rs567042904
NM_153704.6(TMEM67):c.758G>A (p.Cys253Tyr) rs765536334

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