ClinVar Miner

Variants with conflicting interpretations "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "uncertain significance" from Mendelics

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: 6
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)

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