ClinVar Miner

List of variants in gene HSPG2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
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.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
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.1959A>C (p.Gln653His) rs62642535 0.00333
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 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.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.355-14G>C rs372356869 0.00185
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
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.11671+5G>A rs77527456 0.00070
NM_005529.7(HSPG2):c.12238-18G>A rs369294765 0.00066
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_005529.7(HSPG2):c.1654+22C>T rs367553961 0.00044
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_005529.7(HSPG2):c.3303-7C>T rs373330301 0.00026
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_005529.7(HSPG2):c.10721-8C>T rs371225050 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.355-18C>T rs746344135 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005529.7(HSPG2):c.9909G>A (p.Thr3303=) rs201898411 0.00010
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.6912C>T (p.Ala2304=) rs755251798 0.00006
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=) rs375006314 0.00006
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.1508-19C>T rs556696218 0.00004
NM_005529.7(HSPG2):c.7738-8T>C rs753647916 0.00004
NM_005529.7(HSPG2):c.606C>T (p.Ala202=) rs189811325 0.00003
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.5598C>T (p.Pro1866=) rs768493622 0.00002
NM_005529.7(HSPG2):c.11988G>A (p.Gly3996=) rs749833238 0.00001
NM_005529.7(HSPG2):c.1296C>T (p.Gly432=) rs776288943 0.00001
NM_005529.7(HSPG2):c.1654+10C>T rs200578340 0.00001
NM_005529.7(HSPG2):c.1654+14C>T rs376821721 0.00001
NM_005529.7(HSPG2):c.2448C>T (p.Cys816=) rs752512173 0.00001
NM_005529.7(HSPG2):c.4644C>T (p.Tyr1548=) rs1484348962 0.00001
NM_005529.7(HSPG2):c.8544C>T (p.Cys2848=) rs369778477 0.00001
NM_005529.7(HSPG2):c.8911-20T>A rs1287002126 0.00001
NM_005529.7(HSPG2):c.9234C>T (p.Ile3078=) rs745391539 0.00001
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.5997+13del rs529255698
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6981G>C (p.Gly2327=) rs776803197
NM_005529.7(HSPG2):c.7983C>T (p.Ile2661=)
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8616+9G>A rs189754659

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