ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Centogene AG - the Rare Disease Company

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)	rs777926251	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)	rs776421777	0.00001

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