ClinVar Miner

List of variants studied for hyperlipoproteinemia by Institute of Immunology and Genetics Kaiserslautern

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000384.3(APOB):c.2675C>T (p.Pro892Leu) rs780537483 0.00003
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000527.5(LDLR):c.1241T>A (p.Leu414Gln)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)

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