ClinVar Miner

List of variants in gene HSPG2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
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.10356-118T>G rs3738093 0.01913
NM_005529.7(HSPG2):c.574+52C>T rs41307818 0.01856
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.10453+150_10453+151del rs201120852 0.01507
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.4740+151C>T rs112109955 0.01363
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.1654+256A>G rs71636997 0.01111
NM_005529.7(HSPG2):c.574+32C>T rs35863848 0.01110
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.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.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.3967C>G (p.Leu1323Val) rs10917058 0.00662
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.1819-245C>T rs150474156 0.00434
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.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_005529.7(HSPG2):c.7447-107A>G rs558923994 0.00401
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.4176T>C (p.His1392=) rs62642526 0.00369
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.10937G>A (p.Arg3646His) rs112062179 0.00305
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.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.3889-10G>A rs147334960 0.00211
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
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.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.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.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.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.7956G>A (p.Val2652=) rs145265774 0.00053
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.3708G>A (p.Ala1236=) rs202214491 0.00017
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.6057C>T (p.Asp2019=) rs201990135 0.00013
NM_005529.7(HSPG2):c.3197G>A (p.Arg1066Gln) rs537872144 0.00009
NM_005529.7(HSPG2):c.11452+40C>A rs371488065 0.00005
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=) rs367617288 0.00002
NM_005529.7(HSPG2):c.10275C>T (p.Ser3425=) rs1047642520 0.00001
NC_000001.11:g.21937311G>T rs1271186901
NM_005529.7(HSPG2):c.10356-219G>A rs185596336
NM_005529.7(HSPG2):c.1078+83_1078+84insCTCCTGCCCCGCCTTCCACTCCTGCCCCGCCTTCCA rs755003280
NM_005529.7(HSPG2):c.11671+270_11671+271dup 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.1655-162G>A rs149622584
NM_005529.7(HSPG2):c.2344-187_2344-182del rs151328626
NM_005529.7(HSPG2):c.244+125A>T rs76227224
NM_005529.7(HSPG2):c.3302+242G>C rs7354994
NM_005529.7(HSPG2):c.3794-122G>A rs116566663
NM_005529.7(HSPG2):c.4030-54_4030-53del rs375566630
NM_005529.7(HSPG2):c.575-130G>T rs113519618
NM_005529.7(HSPG2):c.5997+144_5998-157dup rs560998877
NM_005529.7(HSPG2):c.6288+77G>C rs187406964
NM_005529.7(HSPG2):c.7158+293C>T rs145276816
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.7737+140C>G rs76426597
NM_005529.7(HSPG2):c.8165-289A>G rs111417196
NM_005529.7(HSPG2):c.8316+3A>G rs1057521178
NM_005529.7(HSPG2):c.8464+206C>A rs116810757
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8910+167del rs200659718
NM_005529.7(HSPG2):c.9052+28G>A rs78848259
NM_005529.7(HSPG2):c.9710-7T>G

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