ClinVar Miner

List of variants in gene HSPG2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_005529.7(HSPG2):c.11993-151A>G rs7518070 0.76960
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_005529.7(HSPG2):c.9710-65G>A rs74060191 0.05742
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_005529.7(HSPG2):c.7446+96G>A rs113035731 0.04046
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_005529.7(HSPG2):c.10355+85G>T rs35423650 0.03833
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570 0.03296
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536 0.02028
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_005529.7(HSPG2):c.3794-78A>T rs60060959 0.01893
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_005529.7(HSPG2):c.2558+17G>T rs74060201 0.01206
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_005529.7(HSPG2):c.1999-13C>T rs77828146 0.01100
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_005529.7(HSPG2):c.8165-93G>A rs77375768 0.00829
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_005529.7(HSPG2):c.9732C>T (p.His3244=) rs74782938 0.00664
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val) rs10917058 0.00662
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_005529.7(HSPG2):c.12012C>T (p.Ser4004=) rs16825967 0.00468
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_005529.7(HSPG2):c.5454C>T (p.Ala1818=) rs142538286 0.00432
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_005529.7(HSPG2):c.10151-8C>T rs184079211 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_005529.7(HSPG2):c.4176T>C (p.His1392=) rs62642526 0.00369
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282 0.00351
NM_005529.7(HSPG2):c.4221+61G>T rs56270915 0.00350
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His) rs62642535 0.00333
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_005529.7(HSPG2):c.703+22C>T rs185397994 0.00321
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_005529.7(HSPG2):c.3657-16C>G rs139310195 0.00230
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00206
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.355-14G>C rs372356869 0.00185
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00083
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_005529.7(HSPG2):c.12238-18G>A rs369294765 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.8354C>T (p.Pro2785Leu) rs151288507 0.00057
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met) rs147860819 0.00053
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.1654+22C>T rs367553961 0.00044
NM_005529.7(HSPG2):c.5702-13G>A rs141464854 0.00044
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu) rs140049357 0.00038
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 0.00036
NM_005529.7(HSPG2):c.6289G>A (p.Val2097Met) rs143419262 0.00031
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) rs146286188 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_005529.7(HSPG2):c.3303-7C>T rs373330301 0.00026
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005529.7(HSPG2):c.283G>C (p.Glu95Gln) rs145704241 0.00022
NM_005529.7(HSPG2):c.4598C>T (p.Pro1533Leu) rs367842568 0.00020
NM_005529.7(HSPG2):c.8149G>A (p.Ala2717Thr) rs145524347 0.00020
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp) rs145185113 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_005529.7(HSPG2):c.4571C>T (p.Ala1524Val) rs144546505 0.00018
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_005529.7(HSPG2):c.10721-8C>T rs371225050 0.00013
NM_005529.7(HSPG2):c.3119A>G (p.Glu1040Gly) rs370768382 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met) rs368497178 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.355-18C>T rs746344135 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr) rs145474376 0.00010
NM_005529.7(HSPG2):c.9909G>A (p.Thr3303=) rs201898411 0.00010
NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp) rs114342311 0.00009
NM_005529.7(HSPG2):c.7151G>A (p.Arg2384Gln) rs144498303 0.00007
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.6912C>T (p.Ala2304=) rs755251798 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00006
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=) rs375006314 0.00006
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu) rs369712921 0.00005
NM_005529.7(HSPG2):c.9836A>G (p.Asn3279Ser) rs368694894 0.00005
NM_005529.7(HSPG2):c.1508-19C>T rs556696218 0.00004
NM_005529.7(HSPG2):c.202G>A (p.Asp68Asn) rs746978748 0.00004
NM_005529.7(HSPG2):c.2165A>G (p.His722Arg) rs1279178543 0.00004
NM_005529.7(HSPG2):c.2966A>G (p.Tyr989Cys) rs565853695 0.00004
NM_005529.7(HSPG2):c.7738-8T>C rs753647916 0.00004
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_005529.7(HSPG2):c.606C>T (p.Ala202=) rs189811325 0.00003
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His) rs144411636 0.00002
NM_005529.7(HSPG2):c.11291G>A (p.Arg3764His) rs149520064 0.00002
NM_005529.7(HSPG2):c.3010T>A (p.Ser1004Thr) rs775214455 0.00002
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.5598C>T (p.Pro1866=) rs768493622 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7307C>A (p.Thr2436Asn) rs747403733 0.00002
NM_005529.7(HSPG2):c.11988G>A (p.Gly3996=) rs749833238 0.00001
NM_005529.7(HSPG2):c.1296C>T (p.Gly432=) rs776288943 0.00001
NM_005529.7(HSPG2):c.1355+5G>A rs781394836 0.00001
NM_005529.7(HSPG2):c.1654+10C>T rs200578340 0.00001
NM_005529.7(HSPG2):c.1654+14C>T rs376821721 0.00001
NM_005529.7(HSPG2):c.1759C>T (p.Arg587Cys) rs1386810012 0.00001
NM_005529.7(HSPG2):c.1868C>T (p.Ala623Val) rs1433786790 0.00001
NM_005529.7(HSPG2):c.1988A>C (p.Gln663Pro) rs1330866141 0.00001
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val) rs374004974 0.00001
NM_005529.7(HSPG2):c.2448C>T (p.Cys816=) rs752512173 0.00001
NM_005529.7(HSPG2):c.3028C>T (p.Arg1010Cys) rs377016014 0.00001
NM_005529.7(HSPG2):c.4644C>T (p.Tyr1548=) rs1484348962 0.00001
NM_005529.7(HSPG2):c.5348T>C (p.Val1783Ala) rs1031570794 0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter) rs745338204 0.00001
NM_005529.7(HSPG2):c.8544C>T (p.Cys2848=) rs369778477 0.00001
NM_005529.7(HSPG2):c.8911-20T>A rs1287002126 0.00001
NM_005529.7(HSPG2):c.9234C>T (p.Ile3078=) rs745391539 0.00001
NM_005529.7(HSPG2):c.9893C>T (p.Pro3298Leu) rs772760659 0.00001
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser) rs868076162
NM_005529.7(HSPG2):c.4980C>A (p.Asn1660Lys) rs1327410425
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) rs745892835
NM_005529.7(HSPG2):c.5878G>C (p.Val1960Leu) rs543536558
NM_005529.7(HSPG2):c.5997+13del rs529255698
NM_005529.7(HSPG2):c.6110G>T (p.Arg2037Leu) rs760003870
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6981G>C (p.Gly2327=) rs776803197
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del) rs761662063
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.7983C>T (p.Ile2661=)
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8616+9G>A rs189754659
NM_005529.7(HSPG2):c.9040G>A (p.Gly3014Arg) rs1553160553
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395

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