ClinVar Miner

List of variants in gene LRP5 reported as pathogenic by OMIM

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys) rs80358308 0.00001
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312 0.00001
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) rs121908667 0.00001
NM_002335.4(LRP5):c.4099G>A (p.Glu1367Lys) rs28939709 0.00001
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn) rs724159827 0.00001
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) rs397514665 0.00001
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) rs121908666
NM_002335.4(LRP5):c.1468del (p.Asp490fs) rs1554967141
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1584+1G>A rs1554967176
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) rs397514663
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) rs121908662
NM_002335.4(LRP5):c.2254C>G (p.Arg752Gly) rs121908674
NM_002335.4(LRP5):c.2305del (p.Asp769fs) rs1554971145
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) rs121908663
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) rs121908660
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) rs80358319
NM_002335.4(LRP5):c.4119dup (p.Lys1374fs) rs80358321
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) rs80358305
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser) rs724159826
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) rs149645175
NM_002335.4(LRP5):c.511G>C (p.Gly171Arg) rs121908669
NM_002335.4(LRP5):c.512G>T (p.Gly171Val) rs121908668
NM_002335.4(LRP5):c.640G>A (p.Ala214Thr) rs121908671
NM_002335.4(LRP5):c.641C>T (p.Ala214Val) rs121908672
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002335.4(LRP5):c.758C>T (p.Thr253Ile) rs121908673
NM_002335.4(LRP5):c.804_813del (p.Gly269fs) rs80358307

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