ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Molecular Diagnostics Lab, Nemours Children's Health, Delaware and "pathogenic" from any submitter

Minimum review status of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware: Collection method of the submission from Molecular Diagnostics Lab, Nemours Children's Health, Delaware:
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_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404

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