Variants with conflicting interpretations "uncertain significance" from Fundacion Hipercolesterolemia Familiar and "likely pathogenic" from Color Diagnostics, LLC DBA Color Health

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)	rs185098634	0.00002
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	rs730882098	0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	rs552422789	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	rs730882078	0.00001
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)	rs755757866
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)	rs777188764

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