ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from 3billion and "benign" from any submitter

Minimum review status of the submission from 3billion: Collection method of the submission from 3billion:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947

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