ClinVar Miner

List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)	rs2077362782
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs)	rs2077408827
NM_000527.5(LDLR):c.2312-2A>G	rs2077660035

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