ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai and "uncertain significance" from any submitter

Minimum review status of the submission from Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai: Collection method of the submission from Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai:
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_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318

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