ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "drug response" 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: 11
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HGVS dbSNP
NC_012920.1:m.1555A>G rs267606617
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000130.4(F5):c.1601G= (p.Arg534=) rs6025
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421

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