ClinVar Miner

Variants in gene TMEM67 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507

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