ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Illumina Laboratory Services, Illumina and "other" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
Single allele

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