ClinVar Miner

List of variants reported as uncertain significance for Hypercholesterolemia, familial, 1 by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe)	rs187652566	0.00042
NM_000527.5(LDLR):c.344G>A (p.Arg115His)	rs201102461	0.00009

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