ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital: Collection method of the submission from Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639

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