ClinVar Miner

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

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.2908-43C>T rs56307046 0.01977
NM_153704.6(TMEM67):c.506+48G>A rs73694924 0.01745
NM_153704.6(TMEM67):c.1774-45A>C rs73694960 0.00769
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
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.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.2175T>C (p.Ala725=) rs368159329 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 0.00006
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.2199T>C (p.Tyr733=) rs774835190 0.00001
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_153704.6(TMEM67):c.1289-8A>T
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.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.313-13dup rs367575555
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)

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