ClinVar Miner

List of variants in gene HSPG2, LDLRAD2 studied for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_001013693.3(LDLRAD2):c.*475G>C rs1049644 0.29929
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_001013693.3(LDLRAD2):c.*109G>A rs1049675 0.03248
NM_001013693.3(LDLRAD2):c.*365G>A rs116354301 0.01017
NM_001013693.3(LDLRAD2):c.*671C>T rs141025054 0.00933
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_001013693.3(LDLRAD2):c.*2087C>T rs117182812 0.00420
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_001013693.3(LDLRAD2):c.*710C>T rs146732517 0.00260
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_001013693.3(LDLRAD2):c.*508G>A rs575020789 0.00113
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971 0.00056
NM_001013693.3(LDLRAD2):c.*478G>C rs538032437 0.00047
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_001013693.3(LDLRAD2):c.*572G>A rs752420673 0.00034
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001013693.3(LDLRAD2):c.*284C>T rs549986026 0.00026
NM_001013693.3(LDLRAD2):c.*420G>A rs754815327 0.00026
NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu) rs144217842 0.00026
NM_001013693.3(LDLRAD2):c.*1081C>T rs568643216 0.00017
NM_001013693.3(LDLRAD2):c.*83T>G rs529474269 0.00014
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_001013693.3(LDLRAD2):c.*883C>T rs561927299 0.00010
NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp) rs752793818 0.00010
NM_001013693.3(LDLRAD2):c.*1056C>T rs541474662 0.00009
NM_001013693.3(LDLRAD2):c.*502T>G rs886046026 0.00009
NM_001013693.3(LDLRAD2):c.*277G>A rs774542904 0.00006
NM_005529.7(HSPG2):c.13172C>T (p.Ser4391Leu) rs961325868 0.00006
NM_001013693.3(LDLRAD2):c.*762G>T rs575761790 0.00004
NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=) rs568526447 0.00004
NM_001013693.3(LDLRAD2):c.*33G>A rs371757519 0.00003
NM_001013693.3(LDLRAD2):c.*998C>T rs777311066 0.00003
NM_005529.7(HSPG2):c.12949G>A (p.Gly4317Ser) rs567999404 0.00003
NM_001013693.3(LDLRAD2):c.*1003C>T rs543277819 0.00002
NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg) rs1383334331 0.00002
NM_001013693.3(LDLRAD2):c.*451C>T rs927771131 0.00001
NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val) rs779443131 0.00001
NM_005529.7(HSPG2):c.13032C>T (p.Thr4344=) rs778590896 0.00001
NM_001013693.3(LDLRAD2):c.*1062G>T rs936423705
NM_001013693.3(LDLRAD2):c.*166G>C rs2097953957
NM_001013693.3(LDLRAD2):c.*197C>T rs886046025
NM_001013693.3(LDLRAD2):c.*1998A>T rs2152683273
NM_001013693.3(LDLRAD2):c.*2001C>G rs2152683279
NM_001013693.3(LDLRAD2):c.*2170G>A rs1459647807
NM_001013693.3(LDLRAD2):c.*276C>G rs151090850
NM_001013693.3(LDLRAD2):c.*551T>C rs1347707634
NM_001013693.3(LDLRAD2):c.*702G>T rs2097955662
NM_001013693.3(LDLRAD2):c.*797C>T rs1173808135
NM_001013693.3(LDLRAD2):c.*893C>G rs886046027
NM_001013693.3(LDLRAD2):c.643+518_*1484del
NM_005529.7(HSPG2):c.12900-2A>C rs111306515
NM_005529.7(HSPG2):c.12900-2A>G
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser) rs769986876
NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=) rs1323835816
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser) rs767431377
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)

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