ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, Cologne University and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Cologne University: Collection method of the submission from Institute of Human Genetics, Cologne University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_176787.5(PIGN):c.1790del (p.Phe597fs) rs1599531710
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs) rs1797574932
NM_205861.3(DHDDS):c.113G>A (p.Arg38His) rs1570332505

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