ClinVar Miner

Variants with conflicting interpretations "other" from Eurofins Ntd Llc (ga) and "benign" from Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
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_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131

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