ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Embryology Laboratory, Victor Chang Cardiac Research Institute and "likely pathogenic" from any submitter

Minimum review status of the submission from Embryology Laboratory, Victor Chang Cardiac Research Institute: Collection method of the submission from Embryology Laboratory, Victor Chang Cardiac Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp) rs147475752 0.00001
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln) rs1363954556 0.00001
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp) rs1672152382
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669

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