ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

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