ClinVar Miner

List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	rs121908025	0.00001
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)	rs879254524

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