ClinVar Miner

List of variants in gene TMEM67 reported as benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1576-181T>C rs3134029 0.98274
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.2101-166T>C rs55844328 0.16705
NC_000008.11:g.93754619T>G rs66507812 0.11274
NM_153704.6(TMEM67):c.313-96C>G rs34022540 0.09803
NM_153704.6(TMEM67):c.1575+53G>A rs73694955 0.05555
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.2100+238A>G rs13272163 0.03878
NM_153704.6(TMEM67):c.1131+145C>T rs11777011 0.03682
NM_153704.6(TMEM67):c.979-159del rs140011862 0.03578
NM_153704.6(TMEM67):c.2101-193A>C rs73326933 0.03353
NM_153704.6(TMEM67):c.1412+201G>A rs73326919 0.03330
NM_153704.6(TMEM67):c.2439+248C>T rs141469691 0.02465
NM_153704.6(TMEM67):c.1065+261G>A rs7837893 0.02443
NM_153704.6(TMEM67):c.1861-177C>T rs76357280 0.02249
NM_153704.6(TMEM67):c.2323-244C>T rs73326938 0.02248
NM_153704.6(TMEM67):c.979-280T>C rs77916229 0.02247
NM_153704.6(TMEM67):c.2322+227A>G rs59319341 0.02014
NM_153704.6(TMEM67):c.2764+294G>A rs192741260 0.01981
NM_153704.6(TMEM67):c.2908-43C>T rs56307046 0.01977
NM_153704.6(TMEM67):c.407-272C>T rs73694922 0.01976
NM_153704.6(TMEM67):c.1674+125G>A rs56199321 0.01975
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.312+194T>G rs73694915 0.01970
NM_153704.6(TMEM67):c.870-29A>G rs116802062 0.01936
NM_153704.6(TMEM67):c.979-164T>C rs73694946 0.01761
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.223+73G>A rs74671511 0.01657
NM_153704.6(TMEM67):c.979-107A>G rs61676319 0.01528
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.2952A>G (p.Ala984=) rs115967793 0.00439
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_153704.6(TMEM67):c.1065+192del rs68031743
NM_153704.6(TMEM67):c.1065+192dup rs68031743
NM_153704.6(TMEM67):c.1131+130del rs1238113432
NM_153704.6(TMEM67):c.2241+165_2241+167del rs35554591
NM_153704.6(TMEM67):c.2241+167del rs35554591
NM_153704.6(TMEM67):c.2322+208_2322+210del rs377147074
NM_153704.6(TMEM67):c.2440-311A>G rs193204361
NM_153704.6(TMEM67):c.2764+100del rs375597348
NM_153704.6(TMEM67):c.406+1090dup rs762843160
NM_153704.6(TMEM67):c.406+1573G>A rs11994625

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