ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Invitae and "affects" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.692C>T (p.Pro231Leu) rs2089450305
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000574.5(CD55):c.261G>A (p.Trp87Ter) rs121909603

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