ClinVar Miner

List of variants in gene HSPG2 reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
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.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.5998-7A>G rs148336692 0.01243
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.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.7296A>T (p.Ala2432=) rs2229485 0.00669
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.1998+9C>T rs377228309 0.00461
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
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.9514-3C>T rs114851424 0.00291
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
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.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00206
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00188
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=) rs138980184 0.00118
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.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00078
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 0.00036
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=) rs375617316 0.00033
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg) rs370471445 0.00024
NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=) rs140509598 0.00021
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr) rs139719757 0.00016
NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=) rs371519713 0.00008
NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr) rs773860532 0.00008
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=) rs375006314 0.00006
NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=) rs759194108 0.00004
NM_005529.7(HSPG2):c.4868+4G>A rs200689461 0.00004
NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys) rs751653012 0.00003
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys) rs752260236 0.00003
NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser) rs778350928 0.00003
NM_005529.7(HSPG2):c.2226C>T (p.Cys742=) rs900156643 0.00002
NM_005529.7(HSPG2):c.3414+5G>A rs764695599 0.00002
NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp) rs755167311 0.00002
NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=) rs761632172 0.00001
NM_005529.7(HSPG2):c.1355+5G>A rs781394836 0.00001
NM_005529.7(HSPG2):c.1534C>T (p.Leu512=) rs758125762 0.00001
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His) rs561392976 0.00001
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00001
NM_005529.7(HSPG2):c.8317-7T>C rs773039564 0.00001
NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala) rs1316660217
NM_005529.7(HSPG2):c.12532+4C>T rs762689360
NM_005529.7(HSPG2):c.1371C>T (p.Ser457=) rs770532300
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=) rs2152711496
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=) rs765768172

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