ClinVar Miner

List of variants in gene HSPG2 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
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.2109C>T (p.Ala703=) rs1874793 0.93527
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
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.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.13467
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
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.11601C>T (p.Tyr3867=) rs112494360 0.03245
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.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.5997+5G>C rs59720663 0.01179
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
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.5442G>A (p.Leu1814=) rs115087461 0.00870
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.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
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.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.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282 0.00351
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.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005529.7(HSPG2):c.2024G>A (p.Arg675Gln) rs143119915 0.00207
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.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_005529.7(HSPG2):c.8156G>A (p.Ser2719Asn) rs139042516 0.00138
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.5160C>T (p.Ser1720=) rs138980184 0.00118
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_005529.7(HSPG2):c.10204G>C (p.Val3402Leu) rs150666616 0.00105
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
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.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00083
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=) rs142011049 0.00081
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.4568G>A (p.Arg1523His) rs147633715 0.00075
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.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met) rs147860819 0.00053
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.8605G>C (p.Ala2869Pro) rs139838884 0.00046
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.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_005529.7(HSPG2):c.9235G>A (p.Val3079Met) rs187525491 0.00039
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
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.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=) rs375617316 0.00033
NM_005529.7(HSPG2):c.7283G>T (p.Gly2428Val) rs561723497 0.00032
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.8254G>A (p.Gly2752Arg) rs143734280 0.00031
NM_005529.7(HSPG2):c.6935G>A (p.Arg2312Gln) rs151178822 0.00029
NM_005529.7(HSPG2):c.12257G>A (p.Arg4086Gln) rs142235298 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
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.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp) rs148803046 0.00022
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 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.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met) rs200944352 0.00016
NM_005529.7(HSPG2):c.5486A>G (p.Asn1829Ser) rs371550970 0.00016
NM_005529.7(HSPG2):c.7843G>A (p.Val2615Ile) rs142226974 0.00016
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00014
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.4234G>A (p.Gly1412Ser) rs146184130 0.00013
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.2890A>T (p.Thr964Ser) rs557553229 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_005529.7(HSPG2):c.12001G>A (p.Val4001Ile) rs985624091 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.8900C>T (p.Ala2967Val) rs201733295 0.00011
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00010
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=) rs151039517 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.10079C>T (p.Ser3360Leu) rs778225565 0.00008
NM_005529.7(HSPG2):c.1507+9G>A rs371371189 0.00008
NM_005529.7(HSPG2):c.201C>T (p.Asp67=) rs144919523 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.3551G>A (p.Gly1184Asp) rs138804377 0.00008
NM_005529.7(HSPG2):c.6205G>A (p.Asp2069Asn) rs751734807 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_005529.7(HSPG2):c.1855C>T (p.Arg619Cys) rs754060584 0.00007
NM_005529.7(HSPG2):c.3148G>A (p.Gly1050Ser) rs779672692 0.00007
NM_005529.7(HSPG2):c.5912G>A (p.Arg1971His) rs747058298 0.00007
NM_005529.7(HSPG2):c.10806C>A (p.Pro3602=) rs367610252 0.00006
NM_005529.7(HSPG2):c.1689G>A (p.Thr563=) rs144988621 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.5217G>A (p.Ser1739=) rs146482954 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005529.7(HSPG2):c.10633G>A (p.Val3545Ile) rs538111168 0.00005
NM_005529.7(HSPG2):c.10661G>A (p.Arg3554His) rs144854184 0.00005
NM_005529.7(HSPG2):c.10905C>T (p.Asp3635=) rs776932601 0.00005
NM_005529.7(HSPG2):c.4813G>A (p.Gly1605Arg) rs370427626 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.10143C>T (p.Leu3381=) rs577292003 0.00004
NM_005529.7(HSPG2):c.11379C>T (p.Asn3793=) rs371570218 0.00004
NM_005529.7(HSPG2):c.12121G>A (p.Gly4041Ser) rs922740637 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_005529.7(HSPG2):c.3337G>A (p.Glu1113Lys) rs112459669 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4502C>T (p.Pro1501Leu) rs371955842 0.00004
NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His) rs144032875 0.00004
NM_005529.7(HSPG2):c.665G>A (p.Arg222Gln) rs762529271 0.00004
NM_005529.7(HSPG2):c.765G>A (p.Pro255=) rs1334406616 0.00004
NM_005529.7(HSPG2):c.8288G>A (p.Arg2763His) rs188987688 0.00004
NM_005529.7(HSPG2):c.10028C>T (p.Ala3343Val) rs527917900 0.00003
NM_005529.7(HSPG2):c.10336G>A (p.Val3446Met) rs573946760 0.00003
NM_005529.7(HSPG2):c.11546G>C (p.Arg3849Pro) rs144525987 0.00003
NM_005529.7(HSPG2):c.11975G>A (p.Arg3992His) rs764827758 0.00003
NM_005529.7(HSPG2):c.1495G>A (p.Val499Ile) rs376748881 0.00003
NM_005529.7(HSPG2):c.2791C>G (p.Arg931Gly) rs141852442 0.00003
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) rs764233594 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.7750C>T (p.Arg2584Trp) rs760052323 0.00003
NM_005529.7(HSPG2):c.8494G>A (p.Glu2832Lys) rs757360257 0.00003
NM_005529.7(HSPG2):c.9421C>T (p.Arg3141Cys) rs560125766 0.00003
NM_005529.7(HSPG2):c.9859G>A (p.Ala3287Thr) rs149276709 0.00003
NM_005529.7(HSPG2):c.9944C>T (p.Thr3315Met) rs762381842 0.00003
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His) rs748180505 0.00002
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His) rs144411636 0.00002
NM_005529.7(HSPG2):c.12116C>T (p.Ser4039Leu) rs1378916104 0.00002
NM_005529.7(HSPG2):c.5089C>T (p.Arg1697Trp) rs754726732 0.00002
NM_005529.7(HSPG2):c.5637C>T (p.Pro1879=) rs374865097 0.00002
NM_005529.7(HSPG2):c.5801G>A (p.Arg1934Gln) rs756689841 0.00002
NM_005529.7(HSPG2):c.6177G>A (p.Ser2059=) rs200272505 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7836G>A (p.Ser2612=) rs138703602 0.00002
NM_005529.7(HSPG2):c.7985C>A (p.Thr2662Lys) rs374346089 0.00002
NM_005529.7(HSPG2):c.10309G>T (p.Gly3437Trp) rs1265080496 0.00001
NM_005529.7(HSPG2):c.1170G>C (p.Glu390Asp) rs1343850626 0.00001
NM_005529.7(HSPG2):c.11819C>T (p.Ala3940Val) rs764345932 0.00001
NM_005529.7(HSPG2):c.2402G>A (p.Gly801Glu) rs759055154 0.00001
NM_005529.7(HSPG2):c.2822C>T (p.Ala941Val) rs1042462225 0.00001
NM_005529.7(HSPG2):c.2824C>G (p.Gln942Glu) rs377203405 0.00001
NM_005529.7(HSPG2):c.362C>T (p.Ser121Leu) rs780963482 0.00001
NM_005529.7(HSPG2):c.3922C>T (p.Arg1308Trp) rs758559575 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4213G>C (p.Gly1405Arg) rs569792172 0.00001
NM_005529.7(HSPG2):c.4226C>T (p.Ala1409Val) rs746918802 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005529.7(HSPG2):c.4649G>A (p.Arg1550His) rs936183951 0.00001
NM_005529.7(HSPG2):c.5638G>A (p.Gly1880Arg) rs755793917 0.00001
NM_005529.7(HSPG2):c.6119T>A (p.Val2040Glu) rs538015199 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6308G>A (p.Arg2103Gln) rs751330969 0.00001
NM_005529.7(HSPG2):c.7389G>A (p.Gln2463=) rs1183628323 0.00001
NM_005529.7(HSPG2):c.7394A>G (p.His2465Arg) rs1327744845 0.00001
NM_005529.7(HSPG2):c.7405A>T (p.Thr2469Ser) rs754887749 0.00001
NM_005529.7(HSPG2):c.8172C>T (p.Gly2724=) rs773666902 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9154A>G (p.Ile3052Val) rs764834261 0.00001
NM_005529.7(HSPG2):c.9274G>A (p.Val3092Met) rs369024085 0.00001
NM_005529.7(HSPG2):c.10151-4G>A
NM_005529.7(HSPG2):c.10193C>G (p.Ser3398Cys)
NM_005529.7(HSPG2):c.10292T>C (p.Leu3431Pro)
NM_005529.7(HSPG2):c.10336G>T (p.Val3446Leu) rs573946760
NM_005529.7(HSPG2):c.10469T>C (p.Leu3490Pro) rs1557683886
NM_005529.7(HSPG2):c.11287C>A (p.Leu3763Met)
NM_005529.7(HSPG2):c.11546G>A (p.Arg3849Gln) rs144525987
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.1187A>C (p.Asp396Ala)
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
NM_005529.7(HSPG2):c.1219dup (p.Gln407fs) rs763945561
NM_005529.7(HSPG2):c.12328C>T (p.Arg4110Cys) rs766333633
NM_005529.7(HSPG2):c.12409+10C>A rs1557670210
NM_005529.7(HSPG2):c.12521G>A (p.Arg4174His)
NM_005529.7(HSPG2):c.1720G>A (p.Asp574Asn)
NM_005529.7(HSPG2):c.1722C>T (p.Asp574=) rs1188327900
NM_005529.7(HSPG2):c.1818+9C>T rs901499998
NM_005529.7(HSPG2):c.1843C>T (p.Arg615Cys) rs1464145632
NM_005529.7(HSPG2):c.2339G>A (p.Cys780Tyr)
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2755G>A (p.Asp919Asn) rs752051085
NM_005529.7(HSPG2):c.2879G>T (p.Ser960Ile) rs768568677
NM_005529.7(HSPG2):c.3035C>T (p.Thr1012Ile) rs1557765051
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.4184T>C (p.Phe1395Ser) rs868076162
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.4471C>A (p.Leu1491Ile) rs1572277794
NM_005529.7(HSPG2):c.4672G>A (p.Gly1558Ser)
NM_005529.7(HSPG2):c.4905G>A (p.Gly1635=) rs1557737957
NM_005529.7(HSPG2):c.5854+5G>A
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
NM_005529.7(HSPG2):c.6134-4C>T
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.653G>A (p.Arg218His) rs560206345
NM_005529.7(HSPG2):c.7104C>A (p.Ser2368=) rs1557715997
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del) rs761662063
NM_005529.7(HSPG2):c.7276C>T (p.Pro2426Ser) rs1449593780
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005529.7(HSPG2):c.750GAC[1] (p.Thr252del)
NM_005529.7(HSPG2):c.770G>A (p.Arg257Gln) rs149319607
NM_005529.7(HSPG2):c.7874-2A>G
NM_005529.7(HSPG2):c.8077G>A (p.Glu2693Lys)
NM_005529.7(HSPG2):c.8127C>A (p.Ile2709=) rs547310973
NM_005529.7(HSPG2):c.8322C>A (p.Arg2774=) rs761872191
NM_005529.7(HSPG2):c.835_836delinsAG (p.Ser279=) rs2152762782
NM_005529.7(HSPG2):c.8500TCC[2] (p.Ser2836del)
NM_005529.7(HSPG2):c.8545G>A (p.Val2849Met) rs147114700
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8616+9G>C rs189754659
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_005529.7(HSPG2):c.9364G>A (p.Val3122Met)
NM_005529.7(HSPG2):c.9503C>G (p.Ala3168Gly)
NM_005529.7(HSPG2):c.9709+3G>A
NM_005529.7(HSPG2):c.9821G>A (p.Gly3274Asp)

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