List of variants in gene LDLR reported as pathogenic by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)	rs755449669	0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	rs121908029	0.00003
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	rs193922566	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	rs771917370	0.00001
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	rs267607213
NM_000527.5(LDLR):c.1586+5G>A	rs781362878
NM_000527.5(LDLR):c.337dup (p.Glu113fs)	rs752191968
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	rs387906305
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	rs11547917
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)

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