List of variants reported for Hypercholesterolemia, familial, 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)	rs547268730	0.00001
NM_000527.5(LDLR):c.1245C>A (p.Asp415Glu)
NM_000527.5(LDLR):c.1351A>G (p.Ile451Val)	rs879254873
NM_000527.5(LDLR):c.1845G>C (p.Glu615Asp)
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr)	rs749038326
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	rs563390335
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)	rs193922571
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)	rs879254548
NM_000527.5(LDLR):c.941-2A>G	rs112366278

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