ClinVar Miner

List of variants in gene HSPG2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 457
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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.3744-165A>G rs2445136 0.97862
NM_005529.7(HSPG2):c.2471+79A>G rs2454294 0.97571
NM_005529.7(HSPG2):c.1079-270T>C rs2445139 0.96551
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.4626+305G>T rs897472 0.93919
NM_005529.7(HSPG2):c.5183-65T>C rs10917056 0.93739
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.8464+143A>G rs7355045 0.77291
NM_005529.7(HSPG2):c.11993-151A>G rs7518070 0.76960
NM_005529.7(HSPG2):c.11562+19C>T rs3736355 0.76763
NM_005529.7(HSPG2):c.5575+37T>G rs12024579 0.75866
NM_005529.7(HSPG2):c.3793+47C>T rs2454290 0.74520
NM_005529.7(HSPG2):c.6439+138A>G rs12117402 0.72806
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_005529.7(HSPG2):c.9194-50G>A rs7556412 0.61181
NM_005529.7(HSPG2):c.2686-114T>C rs2454295 0.54211
NM_005529.7(HSPG2):c.1079-300G>A rs2497632 0.53623
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.52823
NM_005529.7(HSPG2):c.3302+219T>C rs2445134 0.52463
NM_005529.7(HSPG2):c.3744-150T>C rs2247741 0.50670
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_005529.7(HSPG2):c.5394+39T>C rs2305562 0.50305
NM_005529.7(HSPG2):c.10831-41G>A rs7547731 0.38507
NM_005529.7(HSPG2):c.7873+25A>C rs2290501 0.37177
NM_005529.7(HSPG2):c.7159-128T>C rs61777200 0.36211
NM_005529.7(HSPG2):c.11208-74C>T rs4654771 0.35588
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_005529.7(HSPG2):c.4741-217G>A rs56383840 0.26923
NM_005529.7(HSPG2):c.9194-144T>C rs12043008 0.26015
NM_005529.7(HSPG2):c.575-86G>T rs3767140 0.25309
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_005529.7(HSPG2):c.10721-305C>T rs3767137 0.23777
NM_005529.7(HSPG2):c.12238-68C>T rs10917052 0.23358
NM_005529.7(HSPG2):c.574+741C>T rs10917060 0.23310
NM_005529.7(HSPG2):c.2685+49C>T rs7513608 0.22078
NM_005529.7(HSPG2):c.1507+43C>T rs2290493 0.22052
NM_005529.7(HSPG2):c.3414+53G>A rs2290494 0.21594
NM_005529.7(HSPG2):c.7737+105C>A rs6426726 0.21558
NM_005529.7(HSPG2):c.8911-95C>T rs66533518 0.20154
NM_005529.7(HSPG2):c.63+97C>T rs71514204 0.18379
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.4741-154G>A rs74229164 0.16874
NM_005529.7(HSPG2):c.11671+338G>A rs2004150 0.15238
NM_005529.7(HSPG2):c.2685+173G>A rs747546 0.14837
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_005529.7(HSPG2):c.4627-227C>T rs12404444 0.14698
NM_005529.7(HSPG2):c.1079-181G>T rs28653609 0.14196
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.8465-36G>C rs2270698 0.13184
NM_005529.7(HSPG2):c.10720+278C>T rs12044363 0.12802
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
NM_005529.7(HSPG2):c.8164+85C>T rs12023884 0.12754
NM_005529.7(HSPG2):c.3888+76C>T rs16826011 0.10604
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.8911-109A>G rs7528408 0.10225
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.9709+119G>A rs35570238 0.09989
NM_005529.7(HSPG2):c.8910+129C>T rs72662421 0.09310
NM_005529.7(HSPG2):c.1211-30G>A rs113201880 0.08193
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.11207+241G>T rs6688720 0.07409
NM_005529.7(HSPG2):c.3743+118C>T rs11584053 0.07106
NM_005529.7(HSPG2):c.8910+41G>A rs74060195 0.06374
NM_005529.7(HSPG2):c.8622C>T (p.His2874=) rs62642513 0.06306
NM_005529.7(HSPG2):c.2344-141G>T rs55728940 0.06195
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05882
NM_005529.7(HSPG2):c.9514-83T>C rs10917053 0.05870
NM_005529.7(HSPG2):c.9514-132A>G rs10917054 0.05855
NM_005529.7(HSPG2):c.10355+233G>A rs112783936 0.05839
NM_005529.7(HSPG2):c.10721-297A>G rs74060188 0.05747
NM_005529.7(HSPG2):c.9710-65G>A rs74060191 0.05742
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_005529.7(HSPG2):c.11095+52C>T rs60718319 0.05597
NM_005529.7(HSPG2):c.10831-33A>G rs74060187 0.05507
NM_005529.7(HSPG2):c.8759-39C>T rs41266009 0.05491
NM_005529.7(HSPG2):c.4030-85C>T rs2290497 0.05461
NM_005529.7(HSPG2):c.5575+32T>C rs200354565 0.05248
NM_005529.7(HSPG2):c.10720+302G>A rs76382135 0.04991
NM_005529.7(HSPG2):c.8465-87C>T rs75613822 0.04960
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.8465-82G>A rs7520679 0.04454
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_005529.7(HSPG2):c.3744-163G>A rs11587853 0.04213
NM_005529.7(HSPG2):c.7446+96G>A rs113035731 0.04046
NM_005529.7(HSPG2):c.7737+40A>G rs34726153 0.03861
NM_005529.7(HSPG2):c.7159-317C>T rs12724454 0.03848
NM_005529.7(HSPG2):c.8910+77T>C rs75779078 0.03847
NM_005529.7(HSPG2):c.8164+111G>A rs35921133 0.03842
NM_005529.7(HSPG2):c.8616+223A>G rs34884591 0.03839
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.8164+170A>G rs12757119 0.03836
NM_005529.7(HSPG2):c.8164+293C>T rs35286527 0.03836
NM_005529.7(HSPG2):c.4627-163C>T rs74060199 0.03835
NM_005529.7(HSPG2):c.7447-250A>G rs71636992 0.03835
NM_005529.7(HSPG2):c.7159-325G>T rs12725566 0.03834
NM_005529.7(HSPG2):c.8165-52G>A rs34792235 0.03834
NM_005529.7(HSPG2):c.10355+85G>T rs35423650 0.03833
NM_005529.7(HSPG2):c.7446+72G>A rs71636993 0.03833
NM_005529.7(HSPG2):c.10721-236A>G rs71636990 0.03832
NM_005529.7(HSPG2):c.7158+161T>C rs12750012 0.03832
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.03832
NM_005529.7(HSPG2):c.7158+284G>A rs34019350 0.03830
NM_005529.7(HSPG2):c.9194-110C>A rs34470509 0.03829
NM_005529.7(HSPG2):c.7446+275C>T rs12063970 0.03828
NM_005529.7(HSPG2):c.7737+225C>T rs12741617 0.03827
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.5293+241T>C rs12754971 0.03601
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_005529.7(HSPG2):c.5294-230C>T rs76494814 0.03322
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.6289-112G>A rs75819857 0.03126
NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val) rs74859884 0.02997
NM_005529.7(HSPG2):c.703+60A>G rs74062203 0.02735
NM_005529.7(HSPG2):c.2686-29G>C rs75427926 0.02446
NM_005529.7(HSPG2):c.11672-143C>T rs74060184 0.02409
NM_005529.7(HSPG2):c.4222-84G>A rs61268629 0.02152
NM_005529.7(HSPG2):c.3793+98C>T rs57424770 0.02033
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536 0.02028
NM_005529.7(HSPG2):c.11771-64G>A rs116062737 0.01922
NM_005529.7(HSPG2):c.10356-118T>G rs3738093 0.01913
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_005529.7(HSPG2):c.3793+119A>C rs57169149 0.01895
NM_005529.7(HSPG2):c.3794-78A>T rs60060959 0.01893
NM_005529.7(HSPG2):c.574+52C>T rs41307818 0.01856
NM_005529.7(HSPG2):c.2343+21C>T rs111327867 0.01753
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_005529.7(HSPG2):c.3744-135C>T rs41307814 0.01609
NM_005529.7(HSPG2):c.3302+226G>T rs12409663 0.01608
NM_005529.7(HSPG2):c.7159-262G>A rs138786737 0.01571
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.10453+150_10453+151del rs201120852 0.01507
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_005529.7(HSPG2):c.2827-33G>A rs114298459 0.01465
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.10454-274C>T rs114688070 0.01416
NM_005529.7(HSPG2):c.7874-47A>G rs113578258 0.01411
NM_005529.7(HSPG2):c.4740+151C>T rs112109955 0.01363
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.703+40G>A rs74062205 0.01212
NM_005529.7(HSPG2):c.11672-244T>C rs72866967 0.01208
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.1654+256A>G rs71636997 0.01111
NM_005529.7(HSPG2):c.574+32C>T rs35863848 0.01110
NM_005529.7(HSPG2):c.1999-13C>T rs77828146 0.01100
NM_005529.7(HSPG2):c.1818+214C>A rs76061126 0.01095
NM_005529.7(HSPG2):c.3889-99G>A rs185753240 0.01064
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.5293+197G>A rs115902391 0.00967
NM_005529.7(HSPG2):c.8316+86C>T rs115561995 0.00961
NM_005529.7(HSPG2):c.8617-109G>T rs115949734 0.00959
NM_005529.7(HSPG2):c.8165-315G>A rs191793357 0.00958
NM_005529.7(HSPG2):c.6288+133C>T rs114434830 0.00956
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_005529.7(HSPG2):c.10454-247G>A rs75549172 0.00945
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_005529.7(HSPG2):c.11671+110C>G rs186793735 0.00943
NM_005529.7(HSPG2):c.7447-98T>A rs41266011 0.00942
NM_005529.7(HSPG2):c.7737+176T>G rs145269693 0.00927
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.12532+31C>T rs11587688 0.00895
NM_005529.7(HSPG2):c.8617-285G>A rs189113695 0.00888
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_005529.7(HSPG2):c.5855-27C>T rs115553724 0.00850
NM_005529.7(HSPG2):c.10831-91A>T rs116041331 0.00815
NM_005529.7(HSPG2):c.12409+51G>A rs191807581 0.00811
NM_005529.7(HSPG2):c.8617-37C>T rs12096154 0.00793
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_005529.7(HSPG2):c.10150+109_10150+110del rs145556303 0.00782
NM_005529.7(HSPG2):c.9710-67A>G rs145747131 0.00760
NM_005529.7(HSPG2):c.2344-73C>G rs143639550 0.00747
NM_005529.7(HSPG2):c.574+166G>C rs146852947 0.00746
NM_005529.7(HSPG2):c.244+184G>A rs148320521 0.00743
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_005529.7(HSPG2):c.574+649A>G rs76503700 0.00691
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.3888+105G>A rs114453113 0.00623
NM_005529.7(HSPG2):c.574+501G>A rs192886654 0.00618
NM_005529.7(HSPG2):c.9890-116C>T rs74421075 0.00613
NM_005529.7(HSPG2):c.8464+70T>C rs148183635 0.00601
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_005529.7(HSPG2):c.6440-252A>G rs181072863 0.00515
NM_005529.7(HSPG2):c.5575+248G>A rs79683377 0.00503
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.1819-245C>T rs150474156 0.00434
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_005529.7(HSPG2):c.1655-52G>A rs138320589 0.00413
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.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_005529.7(HSPG2):c.7447-107A>G rs558923994 0.00401
NM_005529.7(HSPG2):c.789G>A (p.Met263Ile) rs142194150 0.00398
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_005529.7(HSPG2):c.9193+92C>T rs191840787 0.00386
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.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_005529.7(HSPG2):c.7295-30G>A rs113748255 0.00353
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.4627-116G>A rs12080728 0.00328
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.10150+204C>T rs78988305 0.00302
NM_005529.7(HSPG2):c.2685+270del rs143389294 0.00296
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.3794-135T>C rs143259269 0.00248
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00245
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
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.3889-10G>A rs147334960 0.00211
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.8617-130T>C rs184516097 0.00176
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.11169C>T (p.Phe3723=) rs139033413 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.1525C>T (p.His509Tyr) rs142071466 0.00103
NM_005529.7(HSPG2):c.3744-8C>T rs368626586 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
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.2725G>A (p.Gly909Ser) rs137904249 0.00079
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.12256C>T (p.Arg4086Trp) rs146179360 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
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.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.8504C>A (p.Ser2835Tyr) rs146505513 0.00035
NM_005529.7(HSPG2):c.9710-10G>A rs369434104 0.00034
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.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_005529.7(HSPG2):c.6935G>A (p.Arg2312Gln) rs151178822 0.00029
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.9079G>A (p.Asp3027Asn) rs201759348 0.00026
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.8149G>A (p.Ala2717Thr) rs145524347 0.00020
NM_005529.7(HSPG2):c.4571C>T (p.Ala1524Val) rs144546505 0.00018
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_005529.7(HSPG2):c.1356G>A (p.Arg452=) rs150771453 0.00016
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.5777C>T (p.Thr1926Met) rs138093110 0.00016
NM_005529.7(HSPG2):c.10626C>T (p.Ile3542=) rs140973670 0.00015
NM_005529.7(HSPG2):c.64-13C>T rs201664312 0.00015
NM_005529.7(HSPG2):c.8689G>A (p.Gly2897Arg) rs192525833 0.00015
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.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.6057C>T (p.Asp2019=) rs201990135 0.00013
NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=) rs150600286 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_005529.7(HSPG2):c.1688C>T (p.Thr563Met) rs142062738 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.9412G>A (p.Gly3138Arg) rs201958429 0.00011
NM_005529.7(HSPG2):c.11567G>A (p.Gly3856Asp) rs778722013 0.00010
NM_005529.7(HSPG2):c.3197G>A (p.Arg1066Gln) rs537872144 0.00009
NM_005529.7(HSPG2):c.12487C>T (p.Arg4163Cys) rs139743858 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.11452+40C>A rs371488065 0.00005
NM_005529.7(HSPG2):c.4433G>A (p.Arg1478His) rs752828508 0.00005
NM_005529.7(HSPG2):c.7418G>A (p.Arg2473His) rs749970512 0.00005
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu) rs369712921 0.00005
NM_005529.7(HSPG2):c.10238T>C (p.Ile3413Thr) rs373422589 0.00004
NM_005529.7(HSPG2):c.1078C>G (p.Pro360Ala) rs370772335 0.00004
NM_005529.7(HSPG2):c.10936C>T (p.Arg3646Cys) rs769320743 0.00004
NM_005529.7(HSPG2):c.12007C>T (p.Arg4003Trp) rs529517544 0.00004
NM_005529.7(HSPG2):c.12364G>A (p.Ala4122Thr) rs776288513 0.00004
NM_005529.7(HSPG2):c.1399C>T (p.Arg467Cys) rs146861173 0.00004
NM_005529.7(HSPG2):c.202G>A (p.Asp68Asn) rs746978748 0.00004
NM_005529.7(HSPG2):c.2966A>G (p.Tyr989Cys) rs565853695 0.00004
NM_005529.7(HSPG2):c.7313C>T (p.Thr2438Met) rs148141547 0.00004
NM_005529.7(HSPG2):c.8018G>A (p.Arg2673Gln) rs778613352 0.00004
NM_005529.7(HSPG2):c.11975G>A (p.Arg3992His) rs764827758 0.00003
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His) rs375600124 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_005529.7(HSPG2):c.5135G>A (p.Arg1712His) rs771218611 0.00003
NM_005529.7(HSPG2):c.5356G>A (p.Gly1786Arg) rs766592389 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.6928G>A (p.Val2310Ile) rs374301325 0.00003
NM_005529.7(HSPG2):c.832G>A (p.Gly278Ser) rs371384177 0.00003
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=) rs367617288 0.00002
NM_005529.7(HSPG2):c.11689G>A (p.Ala3897Thr) rs545391821 0.00002
NM_005529.7(HSPG2):c.242T>C (p.Met81Thr) rs374829303 0.00002
NM_005529.7(HSPG2):c.3010T>A (p.Ser1004Thr) rs775214455 0.00002
NM_005529.7(HSPG2):c.8045G>A (p.Arg2682Gln) rs200037164 0.00002
NM_005529.7(HSPG2):c.9072C>T (p.Ile3024=) rs776013099 0.00002
NM_005529.7(HSPG2):c.10275C>T (p.Ser3425=) rs1047642520 0.00001
NM_005529.7(HSPG2):c.12449G>A (p.Arg4150His) rs757540704 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.2012A>G (p.His671Arg) rs758378141 0.00001
NM_005529.7(HSPG2):c.4570G>A (p.Ala1524Thr) rs757196466 0.00001
NM_005529.7(HSPG2):c.4649G>A (p.Arg1550His) rs936183951 0.00001
NM_005529.7(HSPG2):c.8158C>A (p.Pro2720Thr) rs781524119 0.00001
NM_005529.7(HSPG2):c.8323G>A (p.Gly2775Ser) rs1162899719 0.00001
NC_000001.11:g.21937311G>T rs1271186901
NM_005529.7(HSPG2):c.10355+142T>G rs12567651
NM_005529.7(HSPG2):c.10356-123G>C rs71636991
NM_005529.7(HSPG2):c.10356-219G>A rs185596336
NM_005529.7(HSPG2):c.10454-180_10454-177del rs150994577
NM_005529.7(HSPG2):c.10454-198del rs11338283
NM_005529.7(HSPG2):c.1078+66_1078+83dup rs755003280
NM_005529.7(HSPG2):c.1078+80C>T rs115839045
NM_005529.7(HSPG2):c.1078+83_1078+84insCTCCTGCCCCGCCTTCCACTCCTGCCCCGCCTTCCA rs755003280
NM_005529.7(HSPG2):c.1115A>G (p.Gln372Arg)
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11207+241GCAT[2] rs145358134
NM_005529.7(HSPG2):c.11207+244_11207+245insCATT rs199817928
NM_005529.7(HSPG2):c.11671+270_11671+271dup rs145627267
NM_005529.7(HSPG2):c.11671+270dup rs145627267
NM_005529.7(HSPG2):c.11671+291del rs145627267
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.1189C>T (p.Arg397Trp)
NM_005529.7(HSPG2):c.12238-165G>T rs78248488
NM_005529.7(HSPG2):c.12269C>A (p.Thr4090Asn)
NM_005529.7(HSPG2):c.1650C>G (p.Phe550Leu) rs373705708
NM_005529.7(HSPG2):c.1655-162G>A rs149622584
NM_005529.7(HSPG2):c.1788G>A (p.Trp596Ter) rs1064795546
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.2039_2040del (p.Ala680fs) rs886041667
NM_005529.7(HSPG2):c.2344-187_2344-182del rs151328626
NM_005529.7(HSPG2):c.244+125A>T rs76227224
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.2681G>A (p.Cys894Tyr) rs2152751243
NM_005529.7(HSPG2):c.3183+24del rs146439948
NM_005529.7(HSPG2):c.3302+242G>A rs7354994
NM_005529.7(HSPG2):c.3302+242G>C rs7354994
NM_005529.7(HSPG2):c.3303-301C>G rs7355175
NM_005529.7(HSPG2):c.3303-68T>C rs115778726
NM_005529.7(HSPG2):c.3603_3604delinsT (p.Thr1202fs) rs1572319254
NM_005529.7(HSPG2):c.3656+64G>C rs2445135
NM_005529.7(HSPG2):c.3794-122G>A rs116566663
NM_005529.7(HSPG2):c.3809C>T (p.Pro1270Leu) rs1486435285
NM_005529.7(HSPG2):c.3888+41C>T rs79545095
NM_005529.7(HSPG2):c.3899A>G (p.Glu1300Gly)
NM_005529.7(HSPG2):c.4030-54_4030-53del rs375566630
NM_005529.7(HSPG2):c.4222-222T>C rs4654993
NM_005529.7(HSPG2):c.4224G>A (p.Val1408=) rs768369194
NM_005529.7(HSPG2):c.4409G>C (p.Arg1470Pro) rs41310382
NM_005529.7(HSPG2):c.4414G>T (p.Asp1472Tyr) rs776806867
NM_005529.7(HSPG2):c.4445T>C (p.Leu1482Pro) rs2152736395
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.4627-124dup rs3217649
NM_005529.7(HSPG2):c.4760C>G (p.Ala1587Gly) rs757980659
NM_005529.7(HSPG2):c.4955+1G>A
NM_005529.7(HSPG2):c.4955+257_4955+258del rs66469250
NM_005529.7(HSPG2):c.4955+258dup rs34107180
NM_005529.7(HSPG2):c.4956-274dup rs35087204
NM_005529.7(HSPG2):c.5080C>T (p.His1694Tyr) rs865966483
NM_005529.7(HSPG2):c.5597C>T (p.Pro1866Leu) rs776777612
NM_005529.7(HSPG2):c.574+195G>A rs3767141
NM_005529.7(HSPG2):c.574+413G>C rs59335091
NM_005529.7(HSPG2):c.575-130G>T rs113519618
NM_005529.7(HSPG2):c.5990C>T (p.Pro1997Leu)
NM_005529.7(HSPG2):c.5997+144_5998-157dup rs560998877
NM_005529.7(HSPG2):c.5997+74C>G rs77060492
NM_005529.7(HSPG2):c.6288+77G>C rs187406964
NM_005529.7(HSPG2):c.6440-110A>G rs12049614
NM_005529.7(HSPG2):c.6440-296G>T rs12032063
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005529.7(HSPG2):c.7158+293C>T rs145276816
NM_005529.7(HSPG2):c.7158+5G>A rs368828708
NM_005529.7(HSPG2):c.7209C>T (p.Gly2403=)
NM_005529.7(HSPG2):c.7295-84G>A rs34719083
NM_005529.7(HSPG2):c.7433C>T (p.Pro2478Leu) rs377464593
NM_005529.7(HSPG2):c.7446+201G>T rs1962711
NM_005529.7(HSPG2):c.7446+34C>A rs6658388
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005529.7(HSPG2):c.7709G>A (p.Arg2570His)
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.7737+140C>G rs76426597
NM_005529.7(HSPG2):c.7820G>A (p.Gly2607Asp)
NM_005529.7(HSPG2):c.8165-289A>G rs111417196
NM_005529.7(HSPG2):c.8221G>C (p.Gly2741Arg)
NM_005529.7(HSPG2):c.8316+3A>G rs1057521178
NM_005529.7(HSPG2):c.8464+205G>A rs114467791
NM_005529.7(HSPG2):c.8464+206C>A rs116810757
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8617-144del rs146465978
NM_005529.7(HSPG2):c.8758+107C>T rs74060196
NM_005529.7(HSPG2):c.881A>G (p.Asn294Ser)
NM_005529.7(HSPG2):c.8910+124C>G rs7536441
NM_005529.7(HSPG2):c.8910+167del rs200659718
NM_005529.7(HSPG2):c.9047C>T (p.Ser3016Phe) rs2152706371
NM_005529.7(HSPG2):c.9052+28G>A rs78848259
NM_005529.7(HSPG2):c.9328+44C>A rs2270697
NM_005529.7(HSPG2):c.9422G>A (p.Arg3141His)
NM_005529.7(HSPG2):c.9710-7T>G

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