ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill and "pathogenic" from Baylor Genetics

Minimum review status of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill: Collection method of the submission from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195

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