ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from UCLA Clinical Genomics Center, UCLA and "pathogenic" from MGZ Medical Genetics Center

Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA: Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938

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