ClinVar Miner

Variants with conflicting interpretations "other" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "risk factor" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133

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