ClinVar Miner

List of variants in gene LDLRAP1 reported as pathogenic for hyperlipoproteinemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_015627.3(LDLRAP1):c.863C>T (p.Ser288Leu) rs753151497 0.00004
NM_015627.3(LDLRAP1):c.400C>T (p.Gln134Ter) rs751920586 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_015627.3(LDLRAP1):c.431dup (p.His144fs) rs750383461 0.00001
NM_015627.3(LDLRAP1):c.459+2T>G rs1461905374 0.00001
NC_000001.10:g.(?_25870190)_(25870297_?)del
NC_000001.10:g.(?_25883624)_(25883778_?)del
NC_000001.10:g.(?_25889115)_(25889664_?)del
NC_000001.11:g.(?_25543689)_(25557277_?)del
NM_015627.3(LDLRAP1):c.104G>A (p.Trp35Ter) rs2124663461
NM_015627.3(LDLRAP1):c.105G>A (p.Trp35Ter)
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs) rs763778803
NM_015627.3(LDLRAP1):c.113del (p.Thr38fs) rs2044138456
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs) rs868193249
NM_015627.3(LDLRAP1):c.148del (p.Leu50fs)
NM_015627.3(LDLRAP1):c.178C>T (p.Gln60Ter)
NM_015627.3(LDLRAP1):c.207del (p.Ala70fs)
NM_015627.3(LDLRAP1):c.226del (p.Ala76fs)
NM_015627.3(LDLRAP1):c.268_269del (p.Leu90fs) rs2044162851
NM_015627.3(LDLRAP1):c.301_304del (p.Asp101fs)
NM_015627.3(LDLRAP1):c.402del (p.Ser135fs) rs2044223568
NM_015627.3(LDLRAP1):c.432_433insA (p.Ala145fs) rs1557703339
NM_015627.3(LDLRAP1):c.439del (p.Leu147fs) rs758321083
NM_015627.3(LDLRAP1):c.442_443del (p.Cys148fs)
NM_015627.3(LDLRAP1):c.460-1G>A rs2124688583
NM_015627.3(LDLRAP1):c.466del (p.Ala156fs)
NM_015627.3(LDLRAP1):c.487C>T (p.Gln163Ter) rs1057515537
NM_015627.3(LDLRAP1):c.516G>A (p.Trp172Ter)
NM_015627.3(LDLRAP1):c.547del (p.Asp183fs) rs2124690250
NM_015627.3(LDLRAP1):c.567_570del (p.Gly190fs)
NM_015627.3(LDLRAP1):c.571del (p.Asp191fs) rs2044384127
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.604del (p.Ser202fs) rs2044386296
NM_015627.3(LDLRAP1):c.649G>T (p.Glu217Ter) rs2044402416
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_015627.3(LDLRAP1):c.89-2A>G rs2044137351

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