ClinVar Miner

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

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: 14
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HGVS dbSNP
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_203447.3(DOCK8):c.54-1G>T rs192864327

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