ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for Senior-Boichis syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.1057_1065+2del rs1813838655
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu) rs267607117

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