ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Molecular Medicine, Children’s Hospital of Fudan University and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Molecular Medicine, Children’s Hospital of Fudan University: Collection method of the submission from Center for Molecular Medicine, Children’s Hospital of Fudan University:
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 gnomAD frequency
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) rs121908429 0.00001
NM_001558.4(IL10RA):c.537G>A (p.Thr179=) rs1419560997 0.00001
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779

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