ClinVar Miner

Variants with conflicting interpretations "benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "drug response" 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: 7
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HGVS dbSNP
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497
Single allele

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