ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003

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