ClinVar Miner

List of variants studied for familial hyperlipidemia by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313 0.00198
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164 0.00073
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val) rs150843941 0.00016
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_000384.3(APOB):c.3670C>T (p.Arg1224Trp) rs148959244 0.00010
NM_000384.3(APOB):c.4027C>T (p.Pro1343Ser) rs374427541 0.00001
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys) rs864309556
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3362A>G (p.Lys1121Arg) rs879255342
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.982G>A (p.Val328Ile) rs768925824
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)

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