ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by 3billion

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1187del
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala) rs879255060
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)

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