ClinVar Miner

Variants with conflicting interpretations "benign" from Color Health, Inc and "uncertain significance" from Fundacion Hipercolesterolemia Familiar

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926

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