Variants with conflicting interpretations "uncertain significance" from Fundacion Hipercolesterolemia Familiar and "benign" from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar:		Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 7

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00319
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	rs138477254	0.00006
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)	rs730882103	0.00002
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	rs137853960
NM_000527.5(LDLR):c.2389+4A>G	rs758493597
NM_000527.5(LDLR):c.941-39C>T

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