Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg and "likely pathogenic" from Institute of Medical Molecular Genetics, University of Zurich

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

Total variants with conflicting interpretations: 12

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	rs61749414	0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	rs201738997	0.00001
NM_000350.3(ABCA4):c.4352+1G>A	rs200967229	0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	rs62646861	0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.5018+2T>C	rs61750562	0.00001
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	rs61749423
NM_000350.3(ABCA4):c.5196+2T>C	rs61751405

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