ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital: Collection method of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686 0.00002
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183

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