ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Fulgent Genetics, Fulgent Genetics and "pathogenic" from any submitter

Minimum review status of the submission from Fulgent Genetics, Fulgent Genetics: Collection method of the submission from Fulgent Genetics, Fulgent Genetics:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812

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