ClinVar Miner

List of variants in gene HSPG2 studied for Silverman-Handmaker type dyssegmental dysplasia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.4029+32T>A rs2501266 0.98165
NM_005529.7(HSPG2):c.1912A>G (p.Met638Val) rs1874792 0.97869
NM_005529.7(HSPG2):c.324C>T (p.Phe108=) rs2501260 0.95305
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_005529.7(HSPG2):c.2109C>T (p.Ala703=) rs1874793 0.93527
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_005529.7(HSPG2):c.1507+38A>G rs4654994 0.90430
NM_005529.7(HSPG2):c.7738-14T>C rs3767138 0.77496
NM_005529.7(HSPG2):c.11562+19C>T rs3736355 0.76763
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.52823
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_005529.7(HSPG2):c.7873+25A>C rs2290501 0.37177
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_005529.7(HSPG2):c.11352+25C>A rs2270701 0.18117
NM_005529.7(HSPG2):c.7294+25G>A rs2290500 0.16981
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.13467
NM_005529.7(HSPG2):c.10617C>T (p.Val3539=) rs2229492 0.13438
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln) rs2229493 0.10303
NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=) rs2229486 0.10296
NM_005529.7(HSPG2):c.10260C>T (p.His3420=) rs35444472 0.10248
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488 0.10195
NM_005529.7(HSPG2):c.9502G>A (p.Ala3168Thr) rs2228349 0.10008
NM_005529.7(HSPG2):c.3557G>A (p.Arg1186Gln) rs2229481 0.07593
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127 0.07520
NM_005529.7(HSPG2):c.8622C>T (p.His2874=) rs62642513 0.06306
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05882
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_005529.7(HSPG2):c.5575+32T>C rs200354565 0.05248
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_005529.7(HSPG2):c.5575+31C>A rs12757277 0.04871
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_005529.7(HSPG2):c.6133+19T>C rs36080251 0.03837
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.03832
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=) rs12737091 0.03827
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile) rs2229475 0.03821
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570 0.03296
NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=) rs112494360 0.03245
NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val) rs74859884 0.02997
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.2869A>C (p.Asn957His) rs62618730 0.01621
NM_005529.7(HSPG2):c.9329-7C>T rs2270695 0.01525
NM_005529.7(HSPG2):c.9329-8C>T rs2270696 0.01521
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.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.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.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
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.1998+9C>T rs377228309 0.00461
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.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.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
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.12220C>T (p.Arg4074Cys) rs140139732 0.00319
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.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00245
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.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_005529.7(HSPG2):c.3889-10G>A rs147334960 0.00211
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.8044C>T (p.Arg2682Trp) rs142458572 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.4601C>G (p.Pro1534Arg) rs142736845 0.00133
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.1525C>T (p.His509Tyr) rs142071466 0.00103
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
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.958+14G>A rs200930800 0.00092
NM_005529.7(HSPG2):c.4740+14G>A rs370407461 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00078
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
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.12256C>T (p.Arg4086Trp) rs146179360 0.00065
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.7954G>A (p.Val2652Met) rs190732238 0.00062
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_005529.7(HSPG2):c.7956G>A (p.Val2652=) rs145265774 0.00053
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.7158+11G>A rs374680668 0.00049
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005529.7(HSPG2):c.5702-13G>A rs141464854 0.00044
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_005529.7(HSPG2):c.10365C>T (p.Asn3455=) rs189103460 0.00037
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.9710-10G>A rs369434104 0.00034
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=) rs375617316 0.00033
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg) rs142601663 0.00032
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met) rs141464124 0.00031
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
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.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=) rs202067055 0.00026
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_005529.7(HSPG2):c.2685+6C>T rs189296705 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005529.7(HSPG2):c.8025+20C>T rs146363738 0.00023
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=) rs142288625 0.00022
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
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.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) rs147966644 0.00017
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met) rs200944352 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=) rs144447618 0.00014
NM_005529.7(HSPG2):c.1546G>A (p.Ala516Thr) rs147557804 0.00014
NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His) rs145943896 0.00014
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=) rs182418174 0.00014
NM_005529.7(HSPG2):c.10351C>T (p.Leu3451Phe) rs542598107 0.00013
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.4575C>T (p.Leu1525=) rs140056847 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_005529.7(HSPG2):c.8374G>A (p.Val2792Met) rs377625016 0.00013
NM_005529.7(HSPG2):c.9411C>T (p.Ala3137=) rs533824462 0.00013
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.3543C>T (p.His1181=) rs375029322 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met) rs368497178 0.00011
NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser) rs778185997 0.00011
NM_005529.7(HSPG2):c.4681G>A (p.Glu1561Lys) rs372608187 0.00011
NM_005529.7(HSPG2):c.6917C>T (p.Ala2306Val) rs758311848 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.8212G>A (p.Val2738Met) rs144862631 0.00011
NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln) rs202018841 0.00011
NM_005529.7(HSPG2):c.9908C>T (p.Thr3303Met) rs150109595 0.00011
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 0.00010
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.2792G>A (p.Arg931His) rs372407090 0.00010
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=) rs544392697 0.00010
NM_005529.7(HSPG2):c.4900G>A (p.Gly1634Ser) rs372033039 0.00010
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=) rs151039517 0.00009
NM_005529.7(HSPG2):c.3197G>A (p.Arg1066Gln) rs537872144 0.00009
NM_005529.7(HSPG2):c.6952G>A (p.Glu2318Lys) rs372259670 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.8805C>T (p.His2935=) rs201338722 0.00009
NM_005529.7(HSPG2):c.8847C>T (p.Pro2949=) rs371076634 0.00009
NM_005529.7(HSPG2):c.1411G>C (p.Glu471Gln) rs201765006 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.7138A>C (p.Ser2380Arg) rs767635632 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_005529.7(HSPG2):c.10589G>A (p.Arg3530Gln) rs200062985 0.00007
NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=) rs369731617 0.00007
NM_005529.7(HSPG2):c.10096C>T (p.Arg3366Trp) rs139956831 0.00006
NM_005529.7(HSPG2):c.10144G>A (p.Val3382Ile) rs147177951 0.00006
NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu) rs763711047 0.00006
NM_005529.7(HSPG2):c.11974C>T (p.Arg3992Cys) rs150012971 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.1508-9G>A rs538216424 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.3183+10A>T rs368807853 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile) rs372633230 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005529.7(HSPG2):c.8759-13C>T rs139605410 0.00006
NM_005529.7(HSPG2):c.10981C>T (p.Arg3661Trp) rs746678863 0.00005
NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=) rs145093233 0.00005
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile) rs147810145 0.00005
NM_005529.7(HSPG2):c.4654G>A (p.Gly1552Arg) rs746057768 0.00005
NM_005529.7(HSPG2):c.5657G>A (p.Arg1886His) rs370745167 0.00005
NM_005529.7(HSPG2):c.598A>T (p.Thr200Ser) rs199604790 0.00005
NM_005529.7(HSPG2):c.7130G>A (p.Arg2377His) rs191687773 0.00005
NM_005529.7(HSPG2):c.959-7C>T rs529027225 0.00005
NM_005529.7(HSPG2):c.1078+11G>A rs373529899 0.00004
NM_005529.7(HSPG2):c.12007C>T (p.Arg4003Trp) rs529517544 0.00004
NM_005529.7(HSPG2):c.12082C>T (p.Arg4028Trp) rs759213540 0.00004
NM_005529.7(HSPG2):c.1399C>T (p.Arg467Cys) rs146861173 0.00004
NM_005529.7(HSPG2):c.2360C>T (p.Thr787Met) rs758631172 0.00004
NM_005529.7(HSPG2):c.245-11C>T rs377063208 0.00004
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) rs369313904 0.00004
NM_005529.7(HSPG2):c.3003+14G>A rs369278427 0.00004
NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met) rs748529459 0.00004
NM_005529.7(HSPG2):c.3556C>T (p.Arg1186Trp) rs113743582 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4409G>A (p.Arg1470Gln) rs41310382 0.00004
NM_005529.7(HSPG2):c.4576G>A (p.Glu1526Lys) rs767254154 0.00004
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln) rs377462320 0.00004
NM_005529.7(HSPG2):c.5350C>T (p.Arg1784Cys) rs150937055 0.00004
NM_005529.7(HSPG2):c.599C>T (p.Thr200Met) rs201288550 0.00004
NM_005529.7(HSPG2):c.6110G>A (p.Arg2037Gln) rs760003870 0.00004
NM_005529.7(HSPG2):c.7346C>T (p.Ala2449Val) rs375141478 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005529.7(HSPG2):c.7775C>T (p.Pro2592Leu) rs140341550 0.00004
NM_005529.7(HSPG2):c.8163C>T (p.Ser2721=) rs768337273 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005529.7(HSPG2):c.8287C>T (p.Arg2763Cys) rs775757447 0.00004
NM_005529.7(HSPG2):c.8431G>A (p.Glu2811Lys) rs61747612 0.00004
NM_005529.7(HSPG2):c.8711C>T (p.Ala2904Val) rs372570791 0.00004
NM_005529.7(HSPG2):c.9176G>A (p.Arg3059Gln) rs760159387 0.00004
NM_005529.7(HSPG2):c.937G>A (p.Gly313Ser) rs536020535 0.00004
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 0.00003
NM_005529.7(HSPG2):c.10355+13G>A rs749712460 0.00003
NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His) rs376190109 0.00003
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_005529.7(HSPG2):c.2027C>T (p.Pro676Leu) rs552160652 0.00003
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His) rs375600124 0.00003
NM_005529.7(HSPG2):c.3100G>A (p.Gly1034Ser) rs886046041 0.00003
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) rs764233594 0.00003
NM_005529.7(HSPG2):c.4434C>T (p.Arg1478=) rs767789034 0.00003
NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=) rs745452531 0.00003
NM_005529.7(HSPG2):c.4899C>T (p.Ala1633=) rs775314207 0.00003
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) rs368801694 0.00003
NM_005529.7(HSPG2):c.4955+3A>T rs769130391 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_005529.7(HSPG2):c.5998-5G>A rs764410384 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.7610G>A (p.Arg2537His) rs752745046 0.00003
NM_005529.7(HSPG2):c.8026-10G>T rs377601366 0.00003
NM_005529.7(HSPG2):c.8882G>A (p.Arg2961His) rs202072683 0.00003
NM_005529.7(HSPG2):c.9033_9034del (p.Pro3011_Ser3012insTer) rs1318029350 0.00003
NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=) rs749580877 0.00003
NM_005529.7(HSPG2):c.9175C>T (p.Arg3059Trp) rs760017518 0.00003
NM_005529.7(HSPG2):c.9604G>A (p.Val3202Met) rs760284909 0.00003
NM_005529.7(HSPG2):c.9890-4T>G rs770388964 0.00003
NM_005529.7(HSPG2):c.10032C>T (p.Thr3344=) rs373818366 0.00002
NM_005529.7(HSPG2):c.10249G>A (p.Val3417Ile) rs369282867 0.00002
NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=) rs762130127 0.00002
NM_005529.7(HSPG2):c.10863G>A (p.Leu3621=) rs576324046 0.00002
NM_005529.7(HSPG2):c.10894C>T (p.Arg3632Ter) rs762281715 0.00002
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=) rs367617288 0.00002
NM_005529.7(HSPG2):c.3414+5G>A rs764695599 0.00002
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.4396-12C>A rs747704697 0.00002
NM_005529.7(HSPG2):c.5599G>A (p.Val1867Met) rs1432356929 0.00002
NM_005529.7(HSPG2):c.5701+8C>T rs370899852 0.00002
NM_005529.7(HSPG2):c.5848G>A (p.Val1950Met) rs761763385 0.00002
NM_005529.7(HSPG2):c.64-12G>A rs777907037 0.00002
NM_005529.7(HSPG2):c.7510C>T (p.Arg2504Cys) rs761830794 0.00002
NM_005529.7(HSPG2):c.780A>T (p.Thr260=) rs767835991 0.00002
NM_005529.7(HSPG2):c.8397T>G (p.Ser2799=) rs186657949 0.00002
NM_005529.7(HSPG2):c.958+5G>A rs537939062 0.00002
NM_005529.7(HSPG2):c.1033G>A (p.Asp345Asn) rs755218466 0.00001
NM_005529.7(HSPG2):c.10402G>A (p.Ala3468Thr) rs1013471019 0.00001
NM_005529.7(HSPG2):c.10497C>T (p.Thr3499=) rs758425905 0.00001
NM_005529.7(HSPG2):c.10831-15C>G rs761025182 0.00001
NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro) rs771019769 0.00001
NM_005529.7(HSPG2):c.1136A>G (p.Asn379Ser) rs886046045 0.00001
NM_005529.7(HSPG2):c.11422C>T (p.Pro3808Ser) rs755818301 0.00001
NM_005529.7(HSPG2):c.11671+1G>T rs1373848573 0.00001
NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=) rs760805332 0.00001
NM_005529.7(HSPG2):c.12016G>A (p.Glu4006Lys) rs113448590 0.00001
NM_005529.7(HSPG2):c.12345T>G (p.His4115Gln) rs1219506394 0.00001
NM_005529.7(HSPG2):c.12427G>A (p.Glu4143Lys) rs747563153 0.00001
NM_005529.7(HSPG2):c.1508-10C>T rs765166428 0.00001
NM_005529.7(HSPG2):c.1508-15C>T rs750306743 0.00001
NM_005529.7(HSPG2):c.1609C>T (p.Arg537Trp) rs777781736 0.00001
NM_005529.7(HSPG2):c.1666A>T (p.Thr556Ser) rs769587805 0.00001
NM_005529.7(HSPG2):c.1676C>G (p.Ala559Gly) rs748179999 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val) rs374004974 0.00001
NM_005529.7(HSPG2):c.2092T>C (p.Tyr698His) rs773784309 0.00001
NM_005529.7(HSPG2):c.2147T>C (p.Val716Ala) rs374685217 0.00001
NM_005529.7(HSPG2):c.2195+4C>A rs1641399279 0.00001
NM_005529.7(HSPG2):c.2421G>A (p.Thr807=) rs148592148 0.00001
NM_005529.7(HSPG2):c.2568C>T (p.Pro856=) rs886046042 0.00001
NM_005529.7(HSPG2):c.2641G>A (p.Glu881Lys) rs768350322 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.2822C>T (p.Ala941Val) rs1042462225 0.00001
NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp) rs145498664 0.00001
NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=) rs765575912 0.00001
NM_005529.7(HSPG2):c.3649G>C (p.Ala1217Pro) rs757364480 0.00001
NM_005529.7(HSPG2):c.4040A>C (p.His1347Pro) rs1234473043 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=) rs768475262 0.00001
NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=) rs773098995 0.00001
NM_005529.7(HSPG2):c.4895G>C (p.Gly1632Ala) rs748997723 0.00001
NM_005529.7(HSPG2):c.5615C>T (p.Pro1872Leu) rs746717616 0.00001
NM_005529.7(HSPG2):c.5913C>T (p.Arg1971=) rs896647347 0.00001
NM_005529.7(HSPG2):c.6076G>T (p.Val2026Leu) rs886046033 0.00001
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00001
NM_005529.7(HSPG2):c.6133+12C>T rs1330380330 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.7036G>A (p.Glu2346Lys) rs371523455 0.00001
NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=) rs764531754 0.00001
NM_005529.7(HSPG2):c.7165G>A (p.Gly2389Ser) rs765181959 0.00001
NM_005529.7(HSPG2):c.7751G>A (p.Arg2584Gln) rs779023853 0.00001
NM_005529.7(HSPG2):c.7872C>T (p.His2624=) rs749008859 0.00001
NM_005529.7(HSPG2):c.8143C>T (p.Pro2715Ser) rs776094320 0.00001
NM_005529.7(HSPG2):c.8203T>G (p.Ser2735Ala) rs762444406 0.00001
NM_005529.7(HSPG2):c.8205C>T (p.Ser2735=) rs773139137 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9024C>T (p.Thr3008=) rs763389929 0.00001
NM_005529.7(HSPG2):c.9404T>A (p.Val3135Asp) rs371072729 0.00001
NM_005529.7(HSPG2):c.9594G>A (p.Val3198=) rs1460932486 0.00001
NM_005529.7(HSPG2):c.9694C>T (p.Arg3232Cys) rs767115080 0.00001
HSPG2, 10328C-T
HSPG2, 89-BP DUP, EX34
NM_005529.7(HSPG2):c.1012G>A (p.Ala338Thr) rs1641972004
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.10328G>A (p.Gly3443Asp)
NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile) rs372760688
NM_005529.7(HSPG2):c.10679C>T (p.Ala3560Val)
NM_005529.7(HSPG2):c.10722dup (p.Pro3576fs) rs2152695644
NM_005529.7(HSPG2):c.10969C>A (p.Gln3657Lys) rs2098013447
NM_005529.7(HSPG2):c.11187G>A (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11353-13C>T rs765268891
NM_005529.7(HSPG2):c.11562+1G>A
NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp) rs138145234
NM_005529.7(HSPG2):c.11671+10C>T rs540252244
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.1175G>A (p.Ser392Asn) rs1217699227
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.11890G>A (p.Gly3964Arg)
NM_005529.7(HSPG2):c.11946G>A (p.Leu3982=) rs2097992012
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.12143T>C (p.Leu4048Pro) rs1368598061
NM_005529.7(HSPG2):c.12455C>T (p.Pro4152Leu)
NM_005529.7(HSPG2):c.12533-15T>C rs2097983783
NM_005529.7(HSPG2):c.1258C>T (p.Arg420Trp)
NM_005529.7(HSPG2):c.1376G>T (p.Gly459Val) rs886046044
NM_005529.7(HSPG2):c.1584C>A (p.Ser528Arg)
NM_005529.7(HSPG2):c.1601G>A (p.Arg534His) rs138259006
NM_005529.7(HSPG2):c.1654+15G>A rs886046043
NM_005529.7(HSPG2):c.1707G>A (p.Thr569=) rs151214695
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.1870C>T (p.Arg624Cys) rs779022485
NM_005529.7(HSPG2):c.1895G>A (p.Arg632Gln)
NM_005529.7(HSPG2):c.199+14C>T rs886046047
NM_005529.7(HSPG2):c.212G>A (p.Ser71Asn) rs781177979
NM_005529.7(HSPG2):c.2251C>T (p.Arg751Trp) rs192500073
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2860A>G (p.Ser954Gly) rs1641064668
NM_005529.7(HSPG2):c.2951T>A (p.Leu984His) rs776853465
NM_005529.7(HSPG2):c.3131C>T (p.Ala1044Val) rs886046040
NM_005529.7(HSPG2):c.3132C>G (p.Ala1044=) rs759433713
NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser) rs544172715
NM_005529.7(HSPG2):c.3183+8A>G rs886046039
NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=) rs886046038
NM_005529.7(HSPG2):c.3275C>T (p.Ser1092Phe)
NM_005529.7(HSPG2):c.3302+15G>T rs376065244
NM_005529.7(HSPG2):c.3436C>T (p.Arg1146Cys) rs886046037
NM_005529.7(HSPG2):c.3518del (p.Gly1173fs) rs2152747090
NM_005529.7(HSPG2):c.354+3G>A
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=) rs886046036
NM_005529.7(HSPG2):c.3656+4C>T rs1177290016
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.385G>T (p.Asp129Tyr)
NM_005529.7(HSPG2):c.4022G>A (p.Arg1341His)
NM_005529.7(HSPG2):c.4210C>G (p.Gln1404Glu)
NM_005529.7(HSPG2):c.4314+4A>T rs1553166653
NM_005529.7(HSPG2):c.4406G>A (p.Arg1469His) rs373234129
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.4638C>T (p.Pro1546=) rs777118903
NM_005529.7(HSPG2):c.467C>T (p.Ala156Val) rs771803144
NM_005529.7(HSPG2):c.4868+10C>G rs886046035
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) rs745892835
NM_005529.7(HSPG2):c.5567A>T (p.His1856Leu)
NM_005529.7(HSPG2):c.5686A>C (p.Thr1896Pro) rs1192648239
NM_005529.7(HSPG2):c.5701+9G>A rs549778143
NM_005529.7(HSPG2):c.5747G>A (p.Gly1916Asp) rs868030362
NM_005529.7(HSPG2):c.5894C>T (p.Thr1965Ile)
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) rs147669915
NM_005529.7(HSPG2):c.5953G>A (p.Ala1985Thr)
NM_005529.7(HSPG2):c.6029T>C (p.Leu2010Pro) rs886046034
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6259C>T (p.Arg2087Ter)
NM_005529.7(HSPG2):c.6307C>A (p.Arg2103=) rs755167311
NM_005529.7(HSPG2):c.6437del (p.Pro2146fs) rs1419062047
NM_005529.7(HSPG2):c.6724+5G>A rs2152721133
NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=) rs565594406
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005529.7(HSPG2):c.7159-9T>A rs886046032
NM_005529.7(HSPG2):c.7240G>T (p.Val2414Leu)
NM_005529.7(HSPG2):c.7294+1G>C
NM_005529.7(HSPG2):c.7294+9C>A rs886046031
NM_005529.7(HSPG2):c.7347C>G (p.Ala2449=) rs765923626
NM_005529.7(HSPG2):c.7411C>T (p.His2471Tyr) rs886046030
NM_005529.7(HSPG2):c.7446+34C>A rs6658388
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005529.7(HSPG2):c.7559T>C (p.Ile2520Thr) rs900344590
NM_005529.7(HSPG2):c.7687C>T (p.His2563Tyr) rs1557709915
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.7813G>A (p.Gly2605Ser)
NM_005529.7(HSPG2):c.8025+1G>A
NM_005529.7(HSPG2):c.8026-10G>A rs377601366
NM_005529.7(HSPG2):c.8055A>G (p.Gln2685=) rs377715367
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=) rs140067347
NM_005529.7(HSPG2):c.8224G>A (p.Glu2742Lys) rs886046029
NM_005529.7(HSPG2):c.828T>G (p.Leu276=) rs1642001864
NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=) rs377366418
NM_005529.7(HSPG2):c.8458G>A (p.Val2820Ile) rs771648867
NM_005529.7(HSPG2):c.8514G>A (p.Val2838=) rs886046028
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8609G>C (p.Arg2870Pro) rs111846397
NM_005529.7(HSPG2):c.8616+9G>C rs189754659
NM_005529.7(HSPG2):c.8971T>G (p.Cys2991Gly) rs745575586
NM_005529.7(HSPG2):c.9041G>T (p.Gly3014Val) rs1230028155
NM_005529.7(HSPG2):c.9097G>A (p.Val3033Met)
NM_005529.7(HSPG2):c.9300C>T (p.Ala3100=) rs2098048599
NM_005529.7(HSPG2):c.9514-1G>A rs2152704005
NM_005529.7(HSPG2):c.960C>T (p.Gly320=) rs886046046
NM_005529.7(HSPG2):c.9890-7C>A rs377609659
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup) rs1345312289
NM_005529.7(HSPG2):c.9920A>G (p.His3307Arg)
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg) rs1294413650

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