ClinVar Miner

List of variants studied for hyperlipoproteinemia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (22):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000236.3(LIPC):c.1330C>T (p.Arg444Cys) rs573340043 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000078.3(CETP):c.1321+1G>A rs5742907 0.00002
NM_000237.3(LPL):c.1019-3C>A rs2128839190
NM_000237.3(LPL):c.1216A>T (p.Lys406Ter) rs2070033114
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000237.3(LPL):c.628C>T (p.His210Tyr)
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) rs2069982771
NM_000527.5(LDLR):c.*2196TA[7] rs3980933
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1439del (p.Ala480fs)
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.2027del (p.Gly676fs) rs875989937
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2416del (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.743G>C (p.Cys248Ser) rs879254663
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_174936.4(PCSK9):c.523+1G>A

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