ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238

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