ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by CSER _CC_NCGL, University of Washington

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004

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