ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg and "likely pathogenic" from Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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: 5
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HGVS dbSNP gnomAD frequency
NM_000350.2(ABCA4):c.5882G>A rs1800553 0.00350
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006

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