ClinVar Miner

List of variants in gene LRP5 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.4466C>T (p.Thr1489Met) rs376584791 0.00006
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) rs766589610 0.00006
NM_002335.4(LRP5):c.1331G>A (p.Arg444His) rs761049544 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.4081T>G (p.Cys1361Gly) rs80358320 0.00004
NM_002335.4(LRP5):c.1193G>A (p.Arg398His) rs763043311 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.1183C>T (p.Arg395Trp) rs1177481438 0.00001
NM_002335.4(LRP5):c.1210G>A (p.Gly404Arg) rs750791263 0.00001
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) rs761131376 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.2413C>T (p.Arg805Trp) rs765952535 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NC_000011.9:g.(?_68115295)_(68115731_?)dup
NM_002335.4(LRP5):c.1123G>A (p.Ala375Thr)
NM_002335.4(LRP5):c.1192C>G (p.Arg398Gly)
NM_002335.4(LRP5):c.1264G>T (p.Ala422Ser) rs774342727
NM_002335.4(LRP5):c.1339G>A (p.Gly447Ser)
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)
NM_002335.4(LRP5):c.2197T>C (p.Tyr733His) rs746701187
NM_002335.4(LRP5):c.2318+1G>T
NM_002335.4(LRP5):c.2319-2A>C rs2153167012
NM_002335.4(LRP5):c.2484C>G (p.Ile828Met) rs577932894
NM_002335.4(LRP5):c.2543C>A (p.Pro848Gln)
NM_002335.4(LRP5):c.2737T>C (p.Cys913Arg)
NM_002335.4(LRP5):c.2872C>T (p.Arg958Trp)
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3763+2T>C
NM_002335.4(LRP5):c.3863A>G (p.Asp1288Gly)
NM_002335.4(LRP5):c.4000+1G>T rs2098673363
NM_002335.4(LRP5):c.4001-2A>G
NM_002335.4(LRP5):c.4083T>G (p.Cys1361Trp)
NM_002335.4(LRP5):c.4090_4111+398del rs2098675378
NM_002335.4(LRP5):c.4112-2A>G
NM_002335.4(LRP5):c.424C>T (p.Arg142Trp)
NM_002335.4(LRP5):c.425G>C (p.Arg142Pro)
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002335.4(LRP5):c.512G>C (p.Gly171Ala)
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.687-2A>T rs2098629307
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002335.4(LRP5):c.82_91+21del
NM_002335.4(LRP5):c.91+1G>T rs2153110244

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