ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Institute of Human Genetics, University Hospital of Duesseldorf

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)

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