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: 13
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HGVS dbSNP gnomAD frequency
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
UGT1A1*6 rs4148323 0.00891
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744

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