ClinVar Miner

List of variants reported for Familial hypercholesterolemia by LDLR-LOVD, British Heart Foundation

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495

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