ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg: Collection method of the submission from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944

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