ClinVar Miner

List of variants in gene HSPG2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
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.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00245
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.3889-10G>A rs147334960 0.00211
NM_005529.7(HSPG2):c.2024G>A (p.Arg675Gln) rs143119915 0.00207
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
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.10204G>C (p.Val3402Leu) rs150666616 0.00105
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.8325C>T (p.Gly2775=) rs142011049 0.00081
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.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp) rs553885469 0.00051
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.12354G>A (p.Thr4118=) rs371885206 0.00048
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=) rs148362276 0.00038
NM_005529.7(HSPG2):c.87C>T (p.Tyr29=) rs368430410 0.00036
NM_005529.7(HSPG2):c.8254G>A (p.Gly2752Arg) rs143734280 0.00031
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=) rs536882233 0.00029
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_005529.7(HSPG2):c.11958C>T (p.Gly3986=) rs62642498 0.00026
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=) rs202067055 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.11970G>A (p.Glu3990=) rs140509598 0.00021
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
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.1372G>A (p.Glu458Lys) rs531029732 0.00013
NM_005529.7(HSPG2):c.9411C>T (p.Ala3137=) rs533824462 0.00013
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_005529.7(HSPG2):c.6205G>A (p.Asp2069Asn) rs751734807 0.00008
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.9078C>T (p.Ile3026=) rs376461082 0.00005
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=) rs533624001 0.00004
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 0.00004
NM_005529.7(HSPG2):c.7210G>A (p.Glu2404Lys) rs139284792 0.00002
NM_005529.7(HSPG2):c.11988G>A (p.Gly3996=) rs749833238 0.00001
NM_005529.7(HSPG2):c.1654+10C>T rs200578340 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005529.7(HSPG2):c.4773C>T (p.Cys1591=) rs764396560 0.00001
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00001
NM_005529.7(HSPG2):c.10524C>T (p.Phe3508=)
NM_005529.7(HSPG2):c.10721-8C>A rs371225050
NM_005529.7(HSPG2):c.10872C>T (p.Asn3624=)
NM_005529.7(HSPG2):c.11671+10C>T rs540252244
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.1187A>C (p.Asp396Ala)
NM_005529.7(HSPG2):c.12015C>T (p.Ala4005=)
NM_005529.7(HSPG2):c.1355+4C>T
NM_005529.7(HSPG2):c.1548C>T (p.Ala516=)
NM_005529.7(HSPG2):c.2681G>A (p.Cys894Tyr) rs2152751243
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4519A>G (p.Ser1507Gly)
NM_005529.7(HSPG2):c.5453C>G (p.Ala1818Gly)
NM_005529.7(HSPG2):c.5523C>T (p.Thr1841=)
NM_005529.7(HSPG2):c.5649G>A (p.Ala1883=)
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) rs147669915
NM_005529.7(HSPG2):c.7377C>G (p.Leu2459=)
NM_005529.7(HSPG2):c.7434G>A (p.Pro2478=)
NM_005529.7(HSPG2):c.810C>T (p.His270=)
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.9023C>A (p.Thr3008Asn)
NM_005529.7(HSPG2):c.9313A>G (p.Asn3105Asp)

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