ClinVar Miner

List of variants in gene HSPG2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met) rs147860819 0.00053
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.9235G>A (p.Val3079Met) rs187525491 0.00039
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu) rs140049357 0.00038
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 0.00036
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.7283G>T (p.Gly2428Val) rs561723497 0.00032
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg) rs142601663 0.00032
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met) rs141464124 0.00031
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_005529.7(HSPG2):c.8254G>A (p.Gly2752Arg) rs143734280 0.00031
NM_005529.7(HSPG2):c.6935G>A (p.Arg2312Gln) rs151178822 0.00029
NM_005529.7(HSPG2):c.12257G>A (p.Arg4086Gln) rs142235298 0.00027
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=) rs372508479 0.00024
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp) rs148803046 0.00022
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met) rs200944352 0.00016
NM_005529.7(HSPG2):c.5486A>G (p.Asn1829Ser) rs371550970 0.00016
NM_005529.7(HSPG2):c.7843G>A (p.Val2615Ile) rs142226974 0.00016
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00014
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.4234G>A (p.Gly1412Ser) rs146184130 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.2890A>T (p.Thr964Ser) rs557553229 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_005529.7(HSPG2):c.12001G>A (p.Val4001Ile) rs985624091 0.00011
NM_005529.7(HSPG2):c.8900C>T (p.Ala2967Val) rs201733295 0.00011
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.10079C>T (p.Ser3360Leu) rs778225565 0.00008
NM_005529.7(HSPG2):c.1507+9G>A rs371371189 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.3551G>A (p.Gly1184Asp) rs138804377 0.00008
NM_005529.7(HSPG2):c.6205G>A (p.Asp2069Asn) rs751734807 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_005529.7(HSPG2):c.1855C>T (p.Arg619Cys) rs754060584 0.00007
NM_005529.7(HSPG2):c.3148G>A (p.Gly1050Ser) rs779672692 0.00007
NM_005529.7(HSPG2):c.5912G>A (p.Arg1971His) rs747058298 0.00007
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005529.7(HSPG2):c.10633G>A (p.Val3545Ile) rs538111168 0.00005
NM_005529.7(HSPG2):c.10661G>A (p.Arg3554His) rs144854184 0.00005
NM_005529.7(HSPG2):c.4813G>A (p.Gly1605Arg) rs370427626 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.12121G>A (p.Gly4041Ser) rs922740637 0.00004
NM_005529.7(HSPG2):c.3337G>A (p.Glu1113Lys) rs112459669 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4502C>T (p.Pro1501Leu) rs371955842 0.00004
NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His) rs144032875 0.00004
NM_005529.7(HSPG2):c.665G>A (p.Arg222Gln) rs762529271 0.00004
NM_005529.7(HSPG2):c.8288G>A (p.Arg2763His) rs188987688 0.00004
NM_005529.7(HSPG2):c.10028C>T (p.Ala3343Val) rs527917900 0.00003
NM_005529.7(HSPG2):c.10336G>A (p.Val3446Met) rs573946760 0.00003
NM_005529.7(HSPG2):c.11546G>C (p.Arg3849Pro) rs144525987 0.00003
NM_005529.7(HSPG2):c.11975G>A (p.Arg3992His) rs764827758 0.00003
NM_005529.7(HSPG2):c.1495G>A (p.Val499Ile) rs376748881 0.00003
NM_005529.7(HSPG2):c.2791C>G (p.Arg931Gly) rs141852442 0.00003
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg) rs764233594 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.7750C>T (p.Arg2584Trp) rs760052323 0.00003
NM_005529.7(HSPG2):c.8494G>A (p.Glu2832Lys) rs757360257 0.00003
NM_005529.7(HSPG2):c.9421C>T (p.Arg3141Cys) rs560125766 0.00003
NM_005529.7(HSPG2):c.9859G>A (p.Ala3287Thr) rs149276709 0.00003
NM_005529.7(HSPG2):c.9944C>T (p.Thr3315Met) rs762381842 0.00003
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His) rs748180505 0.00002
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His) rs144411636 0.00002
NM_005529.7(HSPG2):c.12116C>T (p.Ser4039Leu) rs1378916104 0.00002
NM_005529.7(HSPG2):c.5089C>T (p.Arg1697Trp) rs754726732 0.00002
NM_005529.7(HSPG2):c.5801G>A (p.Arg1934Gln) rs756689841 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7985C>A (p.Thr2662Lys) rs374346089 0.00002
NM_005529.7(HSPG2):c.10309G>T (p.Gly3437Trp) rs1265080496 0.00001
NM_005529.7(HSPG2):c.1170G>C (p.Glu390Asp) rs1343850626 0.00001
NM_005529.7(HSPG2):c.11819C>T (p.Ala3940Val) rs764345932 0.00001
NM_005529.7(HSPG2):c.2402G>A (p.Gly801Glu) rs759055154 0.00001
NM_005529.7(HSPG2):c.2822C>T (p.Ala941Val) rs1042462225 0.00001
NM_005529.7(HSPG2):c.2824C>G (p.Gln942Glu) rs377203405 0.00001
NM_005529.7(HSPG2):c.362C>T (p.Ser121Leu) rs780963482 0.00001
NM_005529.7(HSPG2):c.3922C>T (p.Arg1308Trp) rs758559575 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4213G>C (p.Gly1405Arg) rs569792172 0.00001
NM_005529.7(HSPG2):c.4226C>T (p.Ala1409Val) rs746918802 0.00001
NM_005529.7(HSPG2):c.4649G>A (p.Arg1550His) rs936183951 0.00001
NM_005529.7(HSPG2):c.5638G>A (p.Gly1880Arg) rs755793917 0.00001
NM_005529.7(HSPG2):c.6119T>A (p.Val2040Glu) rs538015199 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6308G>A (p.Arg2103Gln) rs751330969 0.00001
NM_005529.7(HSPG2):c.7389G>A (p.Gln2463=) rs1183628323 0.00001
NM_005529.7(HSPG2):c.7394A>G (p.His2465Arg) rs1327744845 0.00001
NM_005529.7(HSPG2):c.7405A>T (p.Thr2469Ser) rs754887749 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9154A>G (p.Ile3052Val) rs764834261 0.00001
NM_005529.7(HSPG2):c.9274G>A (p.Val3092Met) rs369024085 0.00001
NM_005529.7(HSPG2):c.10151-4G>A
NM_005529.7(HSPG2):c.10193C>G (p.Ser3398Cys)
NM_005529.7(HSPG2):c.10292T>C (p.Leu3431Pro)
NM_005529.7(HSPG2):c.10336G>T (p.Val3446Leu) rs573946760
NM_005529.7(HSPG2):c.10469T>C (p.Leu3490Pro) rs1557683886
NM_005529.7(HSPG2):c.11287C>A (p.Leu3763Met)
NM_005529.7(HSPG2):c.11546G>A (p.Arg3849Gln) rs144525987
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.1187A>C (p.Asp396Ala)
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
NM_005529.7(HSPG2):c.12328C>T (p.Arg4110Cys) rs766333633
NM_005529.7(HSPG2):c.12409+10C>A rs1557670210
NM_005529.7(HSPG2):c.12521G>A (p.Arg4174His)
NM_005529.7(HSPG2):c.1720G>A (p.Asp574Asn)
NM_005529.7(HSPG2):c.1722C>T (p.Asp574=) rs1188327900
NM_005529.7(HSPG2):c.1818+9C>T rs901499998
NM_005529.7(HSPG2):c.1843C>T (p.Arg615Cys) rs1464145632
NM_005529.7(HSPG2):c.2339G>A (p.Cys780Tyr)
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2755G>A (p.Asp919Asn) rs752051085
NM_005529.7(HSPG2):c.2879G>T (p.Ser960Ile) rs768568677
NM_005529.7(HSPG2):c.3035C>T (p.Thr1012Ile) rs1557765051
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser) rs868076162
NM_005529.7(HSPG2):c.4471C>A (p.Leu1491Ile) rs1572277794
NM_005529.7(HSPG2):c.4672G>A (p.Gly1558Ser)
NM_005529.7(HSPG2):c.4905G>A (p.Gly1635=) rs1557737957
NM_005529.7(HSPG2):c.5854+5G>A
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
NM_005529.7(HSPG2):c.6134-4C>T
NM_005529.7(HSPG2):c.653G>A (p.Arg218His) rs560206345
NM_005529.7(HSPG2):c.7104C>A (p.Ser2368=) rs1557715997
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del) rs761662063
NM_005529.7(HSPG2):c.7276C>T (p.Pro2426Ser) rs1449593780
NM_005529.7(HSPG2):c.750GAC[1] (p.Thr252del)
NM_005529.7(HSPG2):c.770G>A (p.Arg257Gln) rs149319607
NM_005529.7(HSPG2):c.8077G>A (p.Glu2693Lys)
NM_005529.7(HSPG2):c.8127C>A (p.Ile2709=) rs547310973
NM_005529.7(HSPG2):c.835_836delinsAG (p.Ser279=) rs2152762782
NM_005529.7(HSPG2):c.8500TCC[2] (p.Ser2836del)
NM_005529.7(HSPG2):c.8545G>A (p.Val2849Met) rs147114700
NM_005529.7(HSPG2):c.9364G>A (p.Val3122Met)
NM_005529.7(HSPG2):c.9503C>G (p.Ala3168Gly)
NM_005529.7(HSPG2):c.9709+3G>A
NM_005529.7(HSPG2):c.9821G>A (p.Gly3274Asp)

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