ClinVar Miner

List of variants in gene TMEM67 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 64
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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.2892A>C (p.Thr964=) rs16916221 0.04084
NM_153704.6(TMEM67):c.2908-43C>T rs56307046 0.01977
NM_153704.6(TMEM67):c.1518+18T>C rs73694953 0.01972
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_153704.6(TMEM67):c.406+1379G>A rs60659894 0.01971
NM_153704.6(TMEM67):c.870-29A>G rs116802062 0.01936
NM_153704.6(TMEM67):c.506+48G>A rs73694924 0.01745
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
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.312+30C>G rs74712633 0.00588
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_153704.6(TMEM67):c.870-30C>T rs115933371 0.00474
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=) rs368159329 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 0.00006
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.261C>T (p.Ile87=) rs190249177 0.00004
NM_153704.6(TMEM67):c.978+5A>C rs1022082198 0.00004
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter) rs1258492758 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) rs774835190 0.00001
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194 0.00001
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe) rs2130668790
NM_153704.6(TMEM67):c.1083_1084del (p.Glu361fs)
NM_153704.6(TMEM67):c.1289-8A>T
NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)
NM_153704.6(TMEM67):c.174C>T (p.Ser58=)
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2017G>A (p.Val673Ile)
NM_153704.6(TMEM67):c.2139T>G (p.Ser713=)
NM_153704.6(TMEM67):c.224-12_224-3del
NM_153704.6(TMEM67):c.224-4_224-3del rs587779735
NM_153704.6(TMEM67):c.224-7_224-3del
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
NM_153704.6(TMEM67):c.2759dup (p.Tyr920Ter)
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_153704.6(TMEM67):c.384C>G (p.His128Gln)
NM_153704.6(TMEM67):c.385T>C (p.Cys129Arg)
NM_153704.6(TMEM67):c.91C>T (p.Pro31Ser)

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