ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1503+67T>C rs563641 0.82678
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_174936.4(PCSK9):c.1504-16C>T rs28362269 0.01510
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)

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