ClinVar Miner

List of variants in gene TMEM67 reported as benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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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.1518+18T>C rs73694953 0.01972
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
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.506+18G>T rs116705535 0.00585
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.186T>C (p.Cys62=) rs115660279 0.00145
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_153704.6(TMEM67):c.714+18A>T rs140881754 0.00086
NM_153704.6(TMEM67):c.2241+15A>G rs201043898 0.00072
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.1960+17dup rs1475466139
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2765-6dup
NM_153704.6(TMEM67):c.313-13del rs367575555
NM_153704.6(TMEM67):c.651+22del
NM_153704.6(TMEM67):c.869+20T>C

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