Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg and "likely pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge

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:
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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.5018+2T>C	rs61750562	0.00001

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