ClinVar Miner

Variants with conflicting interpretations "likely benign" from 3billion and "likely pathogenic" 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: 6
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HGVS dbSNP gnomAD frequency
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_015443.4(KANSL1):c.2542-1G>A rs111514883

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