ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences and "affects" from any submitter

Minimum review status of the submission from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences: Collection method of the submission from Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences:
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_000202.8(IDS):c.1006+1G>A rs869025308
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.998C>T (p.Ser333Leu) rs104894853

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