ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "pathogenic" from GeneDx

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666 0.00001
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) rs1131691584
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_016604.4(KDM3B):c.4549C>T (p.Arg1517Ter) rs1554131871
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243

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