ClinVar Miner

Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "likely pathogenic" 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: 15
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011

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