Variants with conflicting interpretations "likely pathogenic" from Fundacion Hipercolesterolemia Familiar and "pathogenic" from Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia

Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar:		Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	rs773658037	0.00003
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)	rs879254801
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)	rs879255025
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)	rs879254426
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	rs28942083
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)	rs879254572
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	rs11547917
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)	rs879254746

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