ClinVar Miner

Variants with conflicting interpretations "pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "benign" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287

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