ClinVar Miner

List of variants in gene TMEM67 studied for not specified

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Total variants: 68
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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.2908-43C>T rs56307046 0.01977
NM_153704.6(TMEM67):c.1518+18T>C rs73694953 0.01972
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.369C>T (p.Ala123=) rs115640152 0.00046
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
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.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 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.2848G>A (p.Val950Met) rs771551765 0.00004
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.652-16A>G rs569346767 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_001142301.1(TMEM67):c.-207G>A rs758890132 0.00001
NM_153704.6(TMEM67):c.-4T>G rs80108685 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) rs774835190 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_153704.6(TMEM67):c.-1C>T
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1351C>A (p.Arg451=) rs116647652
NM_153704.6(TMEM67):c.1575+5G>A rs1554555063
NM_153704.6(TMEM67):c.1676C>G (p.Thr559Arg) rs1563470521
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2184_2185insCACTGCACTCCAGCCTGGGTGACAGAGCGGGAC (p.Ser728_Cys729insHisCysThrProAlaTrpValThrGluArgAsp)
NM_153704.6(TMEM67):c.224-4_224-3del rs587779735
NM_153704.6(TMEM67):c.224-5_224-3del rs587779735
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser) rs762543032
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro) rs863225234
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
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.313-13dup rs367575555
NM_153704.6(TMEM67):c.395G>C (p.Gly132Ala)
NM_153704.6(TMEM67):c.506+18G>A rs116705535

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