List of variants in gene LDLR reported as likely pathogenic by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)	rs730882102
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)	rs879254936
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)	rs879255045
NM_000527.5(LDLR):c.2414G>A (p.Gly805Glu)	rs2147286859

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