ClinVar Miner

List of variants in gene HSPG2 reported as benign for Schwartz-Jampel syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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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.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.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.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.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.11294G>A (p.Ser3765Asn) rs114223739 0.00347
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.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
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.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.7446+34C>A rs6658388
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478

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