ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome-Nilou Lab and "uncertain significance" from Natera, Inc.

Minimum review status of the submission from Genome-Nilou Lab: Collection method of the submission from Genome-Nilou Lab:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944

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