ClinVar Miner

List of variants in gene HSPG2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser) rs113695182 0.00066
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
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.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_005529.7(HSPG2):c.12083G>A (p.Arg4028Gln) rs369541804 0.00034
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.965C>T (p.Pro322Leu) rs115267963 0.00032
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys) rs144511257 0.00031
NM_005529.7(HSPG2):c.6289G>A (p.Val2097Met) rs143419262 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.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp) rs148803046 0.00022
NM_005529.7(HSPG2):c.11881G>A (p.Ala3961Thr) rs371079941 0.00021
NM_005529.7(HSPG2):c.4598C>T (p.Pro1533Leu) rs367842568 0.00020
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_005529.7(HSPG2):c.9079G>A (p.Asp3027Asn) rs201759348 0.00018
NM_005529.7(HSPG2):c.5486A>G (p.Asn1829Ser) rs371550970 0.00016
NM_005529.7(HSPG2):c.5777C>T (p.Thr1926Met) rs138093110 0.00016
NM_005529.7(HSPG2):c.8689G>A (p.Gly2897Arg) rs192525833 0.00015
NM_005529.7(HSPG2):c.1546G>A (p.Ala516Thr) rs147557804 0.00014
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00014
NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His) rs145943896 0.00014
NM_005529.7(HSPG2):c.10351C>T (p.Leu3451Phe) rs542598107 0.00013
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln) rs150650673 0.00013
NM_005529.7(HSPG2):c.3119A>G (p.Glu1040Gly) rs370768382 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.8374G>A (p.Val2792Met) rs377625016 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.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_005529.7(HSPG2):c.11567G>A (p.Gly3856Asp) rs778722013 0.00010
NM_005529.7(HSPG2):c.11906G>A (p.Ser3969Asn) rs376020297 0.00010
NM_005529.7(HSPG2):c.4900G>A (p.Gly1634Ser) rs372033039 0.00010
NM_005529.7(HSPG2):c.10678G>A (p.Ala3560Thr) rs749882511 0.00009
NM_005529.7(HSPG2):c.5743G>A (p.Gly1915Ser) rs368203304 0.00009
NM_005529.7(HSPG2):c.7150C>T (p.Arg2384Trp) rs372112548 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.3551G>A (p.Gly1184Asp) rs138804377 0.00008
NM_005529.7(HSPG2):c.10589G>A (p.Arg3530Gln) rs200062985 0.00007
NM_005529.7(HSPG2):c.10740G>A (p.Met3580Ile) rs374473164 0.00007
NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu) rs763711047 0.00006
NM_005529.7(HSPG2):c.12487C>T (p.Arg4163Cys) rs139743858 0.00006
NM_005529.7(HSPG2):c.2743A>T (p.Thr915Ser) rs981624730 0.00006
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.10981C>T (p.Arg3661Trp) rs746678863 0.00005
NM_005529.7(HSPG2):c.3472C>T (p.Arg1158Cys) rs200400126 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.5657G>A (p.Arg1886His) rs370745167 0.00005
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu) rs369712921 0.00005
NM_005529.7(HSPG2):c.10936C>T (p.Arg3646Cys) rs769320743 0.00004
NM_005529.7(HSPG2):c.112A>G (p.Ile38Val) rs772103808 0.00004
NM_005529.7(HSPG2):c.11551C>T (p.Arg3851Trp) rs781371043 0.00004
NM_005529.7(HSPG2):c.11746C>T (p.Arg3916Cys) rs139182361 0.00004
NM_005529.7(HSPG2):c.12121G>A (p.Gly4041Ser) rs922740637 0.00004
NM_005529.7(HSPG2):c.12364G>A (p.Ala4122Thr) rs776288513 0.00004
NM_005529.7(HSPG2):c.1399C>T (p.Arg467Cys) rs146861173 0.00004
NM_005529.7(HSPG2):c.2360C>T (p.Thr787Met) rs758631172 0.00004
NM_005529.7(HSPG2):c.2434C>T (p.Arg812Trp) rs373479774 0.00004
NM_005529.7(HSPG2):c.2597G>A (p.Gly866Asp) rs150004000 0.00004
NM_005529.7(HSPG2):c.2966A>G (p.Tyr989Cys) rs565853695 0.00004
NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met) rs748529459 0.00004
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln) rs375214661 0.00004
NM_005529.7(HSPG2):c.4409G>A (p.Arg1470Gln) rs41310382 0.00004
NM_005529.7(HSPG2):c.5917G>A (p.Val1973Ile) rs145332480 0.00004
NM_005529.7(HSPG2):c.6110G>A (p.Arg2037Gln) rs760003870 0.00004
NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His) rs144032875 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005529.7(HSPG2):c.7775C>T (p.Pro2592Leu) rs140341550 0.00004
NM_005529.7(HSPG2):c.8287C>T (p.Arg2763Cys) rs775757447 0.00004
NM_005529.7(HSPG2):c.8288G>A (p.Arg2763His) rs188987688 0.00004
NM_005529.7(HSPG2):c.8711C>T (p.Ala2904Val) rs372570791 0.00004
NM_005529.7(HSPG2):c.916G>A (p.Gly306Arg) rs149899316 0.00004
NM_005529.7(HSPG2):c.9176G>A (p.Arg3059Gln) rs760159387 0.00004
NM_005529.7(HSPG2):c.937G>A (p.Gly313Ser) rs536020535 0.00004
NM_005529.7(HSPG2):c.9944C>T (p.Thr3315Met) rs762381842 0.00004
NM_005529.7(HSPG2):c.10028C>T (p.Ala3343Val) rs527917900 0.00003
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 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.1237C>T (p.Arg413Trp) rs745376918 0.00003
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_005529.7(HSPG2):c.2027C>T (p.Pro676Leu) rs552160652 0.00003
NM_005529.7(HSPG2):c.3100G>A (p.Gly1034Ser) rs886046041 0.00003
NM_005529.7(HSPG2):c.4096C>T (p.Arg1366Cys) rs764392896 0.00003
NM_005529.7(HSPG2):c.5135G>A (p.Arg1712His) rs771218611 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.6928G>A (p.Val2310Ile) rs374301325 0.00003
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys) rs752260236 0.00003
NM_005529.7(HSPG2):c.727C>G (p.Pro243Ala) rs370556487 0.00003
NM_005529.7(HSPG2):c.7750C>T (p.Arg2584Trp) rs760052323 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.10085G>A (p.Arg3362His) rs748180505 0.00002
NM_005529.7(HSPG2):c.11689G>A (p.Ala3897Thr) rs545391821 0.00002
NM_005529.7(HSPG2):c.12116C>T (p.Ser4039Leu) rs1378916104 0.00002
NM_005529.7(HSPG2):c.12181G>A (p.Val4061Met) rs751181582 0.00002
NM_005529.7(HSPG2):c.121G>A (p.Val41Ile) rs774480435 0.00002
NM_005529.7(HSPG2):c.242T>C (p.Met81Thr) rs374829303 0.00002
NM_005529.7(HSPG2):c.3010T>A (p.Ser1004Thr) rs775214455 0.00002
NM_005529.7(HSPG2):c.3414+5G>A rs764695599 0.00002
NM_005529.7(HSPG2):c.5599G>A (p.Val1867Met) rs1432356929 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7510C>T (p.Arg2504Cys) rs761830794 0.00002
NM_005529.7(HSPG2):c.7985C>A (p.Thr2662Lys) rs374346089 0.00002
NM_005529.7(HSPG2):c.8318C>T (p.Thr2773Ile) rs754456095 0.00002
NM_005529.7(HSPG2):c.8870C>T (p.Thr2957Met) rs780627401 0.00002
NM_005529.7(HSPG2):c.10339C>A (p.Gln3447Lys) rs762559450 0.00001
NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro) rs771019769 0.00001
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln) rs558798136 0.00001
NM_005529.7(HSPG2):c.2125G>A (p.Asp709Asn) rs745693808 0.00001
NM_005529.7(HSPG2):c.4570G>A (p.Ala1524Thr) rs757196466 0.00001
NM_005529.7(HSPG2):c.5246G>A (p.Arg1749His) rs765557016 0.00001
NM_005529.7(HSPG2):c.5264A>G (p.Asn1755Ser) rs1471314533 0.00001
NM_005529.7(HSPG2):c.5638G>A (p.Gly1880Arg) rs755793917 0.00001
NM_005529.7(HSPG2):c.6965C>T (p.Thr2322Met) rs185532720 0.00001
NM_005529.7(HSPG2):c.7036G>A (p.Glu2346Lys) rs371523455 0.00001
NM_005529.7(HSPG2):c.7118C>T (p.Thr2373Met) rs141458309 0.00001
NM_005529.7(HSPG2):c.7405A>T (p.Thr2469Ser) rs754887749 0.00001
NM_005529.7(HSPG2):c.7751G>A (p.Arg2584Gln) rs779023853 0.00001
NM_005529.7(HSPG2):c.8218G>A (p.Glu2740Lys) rs545072429 0.00001
NM_005529.7(HSPG2):c.9404T>A (p.Val3135Asp) rs371072729 0.00001
NM_005529.7(HSPG2):c.9695G>A (p.Arg3232His) rs758945882 0.00001
NM_005529.7(HSPG2):c.10001G>A (p.Arg3334His)
NM_005529.7(HSPG2):c.10063G>A (p.Ala3355Thr)
NM_005529.7(HSPG2):c.10070C>T (p.Pro3357Leu)
NM_005529.7(HSPG2):c.10160G>C (p.Gly3387Ala)
NM_005529.7(HSPG2):c.10180A>G (p.Ile3394Val)
NM_005529.7(HSPG2):c.10276G>A (p.Asp3426Asn)
NM_005529.7(HSPG2):c.10298G>T (p.Trp3433Leu)
NM_005529.7(HSPG2):c.10489G>A (p.Val3497Met)
NM_005529.7(HSPG2):c.10558G>A (p.Val3520Met)
NM_005529.7(HSPG2):c.10589G>T (p.Arg3530Leu)
NM_005529.7(HSPG2):c.10753C>T (p.Arg3585Cys)
NM_005529.7(HSPG2):c.10784C>T (p.Pro3595Leu)
NM_005529.7(HSPG2):c.10850C>T (p.Pro3617Leu)
NM_005529.7(HSPG2):c.1087C>T (p.Arg363Cys)
NM_005529.7(HSPG2):c.10906G>A (p.Ala3636Thr) rs370883205
NM_005529.7(HSPG2):c.10906G>C (p.Ala3636Pro)
NM_005529.7(HSPG2):c.11240G>A (p.Arg3747His)
NM_005529.7(HSPG2):c.11321G>A (p.Gly3774Asp)
NM_005529.7(HSPG2):c.11380G>A (p.Glu3794Lys)
NM_005529.7(HSPG2):c.11407G>A (p.Asp3803Asn)
NM_005529.7(HSPG2):c.1140G>A (p.Met380Ile) rs2152760304
NM_005529.7(HSPG2):c.11467C>G (p.Leu3823Val)
NM_005529.7(HSPG2):c.11477A>C (p.Gln3826Pro)
NM_005529.7(HSPG2):c.11516C>T (p.Ala3839Val)
NM_005529.7(HSPG2):c.11545C>T (p.Arg3849Trp)
NM_005529.7(HSPG2):c.11635C>G (p.Arg3879Gly)
NM_005529.7(HSPG2):c.11636G>T (p.Arg3879Leu)
NM_005529.7(HSPG2):c.11648C>T (p.Ser3883Leu)
NM_005529.7(HSPG2):c.11669C>G (p.Pro3890Arg)
NM_005529.7(HSPG2):c.11704C>T (p.Arg3902Trp)
NM_005529.7(HSPG2):c.11714G>T (p.Gly3905Val)
NM_005529.7(HSPG2):c.11723A>G (p.Tyr3908Cys)
NM_005529.7(HSPG2):c.1172A>G (p.Glu391Gly)
NM_005529.7(HSPG2):c.11758C>T (p.Arg3920Trp)
NM_005529.7(HSPG2):c.11798C>T (p.Ser3933Leu)
NM_005529.7(HSPG2):c.11863G>C (p.Val3955Leu)
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.11956G>A (p.Gly3986Ser)
NM_005529.7(HSPG2):c.11957G>A (p.Gly3986Asp)
NM_005529.7(HSPG2):c.12040C>T (p.His4014Tyr)
NM_005529.7(HSPG2):c.12211G>T (p.Ala4071Ser)
NM_005529.7(HSPG2):c.12229G>A (p.Val4077Met)
NM_005529.7(HSPG2):c.12292G>A (p.Gly4098Ser)
NM_005529.7(HSPG2):c.12353C>G (p.Thr4118Arg)
NM_005529.7(HSPG2):c.12412G>A (p.Asp4138Asn)
NM_005529.7(HSPG2):c.1285G>C (p.Val429Leu)
NM_005529.7(HSPG2):c.128C>T (p.Ala43Val)
NM_005529.7(HSPG2):c.1379G>T (p.Gly460Val)
NM_005529.7(HSPG2):c.1395C>G (p.Ile465Met)
NM_005529.7(HSPG2):c.1420C>G (p.Gln474Glu)
NM_005529.7(HSPG2):c.1448A>G (p.Asn483Ser)
NM_005529.7(HSPG2):c.1505G>A (p.Arg502Gln)
NM_005529.7(HSPG2):c.1676C>T (p.Ala559Val)
NM_005529.7(HSPG2):c.1729C>A (p.Leu577Met)
NM_005529.7(HSPG2):c.1745T>C (p.Leu582Pro)
NM_005529.7(HSPG2):c.1771G>T (p.Val591Phe) rs375066928
NM_005529.7(HSPG2):c.1856G>A (p.Arg619His)
NM_005529.7(HSPG2):c.1894C>T (p.Arg632Trp)
NM_005529.7(HSPG2):c.1898C>T (p.Pro633Leu)
NM_005529.7(HSPG2):c.2009T>C (p.Val670Ala)
NM_005529.7(HSPG2):c.2113G>A (p.Val705Met)
NM_005529.7(HSPG2):c.2153A>G (p.His718Arg)
NM_005529.7(HSPG2):c.2201C>G (p.Pro734Arg)
NM_005529.7(HSPG2):c.2416G>C (p.Ala806Pro)
NM_005529.7(HSPG2):c.2467C>T (p.Arg823Cys)
NM_005529.7(HSPG2):c.2521G>T (p.Ala841Ser)
NM_005529.7(HSPG2):c.2566C>G (p.Pro856Ala)
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2819G>A (p.Arg940His)
NM_005529.7(HSPG2):c.2977C>G (p.Leu993Val)
NM_005529.7(HSPG2):c.3059G>T (p.Gly1020Val)
NM_005529.7(HSPG2):c.3179G>A (p.Arg1060Gln)
NM_005529.7(HSPG2):c.3289C>T (p.Pro1097Ser)
NM_005529.7(HSPG2):c.3320T>C (p.Met1107Thr)
NM_005529.7(HSPG2):c.3380C>T (p.Ser1127Phe)
NM_005529.7(HSPG2):c.3397C>T (p.Arg1133Cys)
NM_005529.7(HSPG2):c.3398G>A (p.Arg1133His)
NM_005529.7(HSPG2):c.3505G>A (p.Glu1169Lys) rs970856044
NM_005529.7(HSPG2):c.3529-3C>T
NM_005529.7(HSPG2):c.3586G>A (p.Gly1196Arg)
NM_005529.7(HSPG2):c.3801C>G (p.Ser1267Arg)
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.3970C>T (p.Pro1324Ser)
NM_005529.7(HSPG2):c.4253C>A (p.Thr1418Asn)
NM_005529.7(HSPG2):c.4264A>C (p.Thr1422Pro)
NM_005529.7(HSPG2):c.4313C>T (p.Thr1438Met)
NM_005529.7(HSPG2):c.4382T>C (p.Ile1461Thr)
NM_005529.7(HSPG2):c.4462C>G (p.Leu1488Val)
NM_005529.7(HSPG2):c.4547C>T (p.Pro1516Leu)
NM_005529.7(HSPG2):c.4646C>T (p.Thr1549Met)
NM_005529.7(HSPG2):c.4697A>G (p.Asn1566Ser)
NM_005529.7(HSPG2):c.4742A>G (p.Gln1581Arg)
NM_005529.7(HSPG2):c.4887G>C (p.Glu1629Asp)
NM_005529.7(HSPG2):c.5013G>T (p.Glu1671Asp)
NM_005529.7(HSPG2):c.5060T>A (p.Ile1687Lys)
NM_005529.7(HSPG2):c.5078C>T (p.Ser1693Phe)
NM_005529.7(HSPG2):c.5272C>T (p.Arg1758Trp)
NM_005529.7(HSPG2):c.5347G>T (p.Val1783Leu)
NM_005529.7(HSPG2):c.5351G>A (p.Arg1784His)
NM_005529.7(HSPG2):c.5422C>T (p.Arg1808Cys)
NM_005529.7(HSPG2):c.5434G>A (p.Gly1812Arg)
NM_005529.7(HSPG2):c.5452G>A (p.Ala1818Thr)
NM_005529.7(HSPG2):c.5456T>C (p.Met1819Thr)
NM_005529.7(HSPG2):c.5465A>G (p.Asn1822Ser)
NM_005529.7(HSPG2):c.5487C>A (p.Asn1829Lys)
NM_005529.7(HSPG2):c.5762C>A (p.Pro1921Gln)
NM_005529.7(HSPG2):c.5779G>C (p.Asp1927His)
NM_005529.7(HSPG2):c.5884C>G (p.Pro1962Ala)
NM_005529.7(HSPG2):c.5918T>C (p.Val1973Ala)
NM_005529.7(HSPG2):c.5944G>A (p.Val1982Met)
NM_005529.7(HSPG2):c.5953G>A (p.Ala1985Thr)
NM_005529.7(HSPG2):c.5978G>C (p.Gly1993Ala)
NM_005529.7(HSPG2):c.5981G>A (p.Gly1994Asp)
NM_005529.7(HSPG2):c.6002G>C (p.Arg2001Pro)
NM_005529.7(HSPG2):c.6013A>G (p.Thr2005Ala)
NM_005529.7(HSPG2):c.6036C>G (p.Ile2012Met)
NM_005529.7(HSPG2):c.605C>T (p.Ala202Val)
NM_005529.7(HSPG2):c.6079G>A (p.Ala2027Thr)
NM_005529.7(HSPG2):c.6152C>T (p.Pro2051Leu)
NM_005529.7(HSPG2):c.6155C>T (p.Pro2052Leu)
NM_005529.7(HSPG2):c.6226G>T (p.Gly2076Trp)
NM_005529.7(HSPG2):c.6263G>C (p.Gly2088Ala)
NM_005529.7(HSPG2):c.6310C>T (p.Leu2104Phe)
NM_005529.7(HSPG2):c.6317A>G (p.Gln2106Arg)
NM_005529.7(HSPG2):c.6353G>C (p.Arg2118Pro)
NM_005529.7(HSPG2):c.6388A>G (p.Ile2130Val)
NM_005529.7(HSPG2):c.653G>A (p.Arg218His) rs560206345
NM_005529.7(HSPG2):c.670G>A (p.Asp224Asn)
NM_005529.7(HSPG2):c.6883C>T (p.Arg2295Cys)
NM_005529.7(HSPG2):c.7004A>G (p.Tyr2335Cys)
NM_005529.7(HSPG2):c.7027A>C (p.Ile2343Leu)
NM_005529.7(HSPG2):c.7031G>A (p.Arg2344His)
NM_005529.7(HSPG2):c.7229T>C (p.Leu2410Ser)
NM_005529.7(HSPG2):c.7240G>A (p.Val2414Met)
NM_005529.7(HSPG2):c.7240G>T (p.Val2414Leu)
NM_005529.7(HSPG2):c.7280C>T (p.Ala2427Val)
NM_005529.7(HSPG2):c.7393C>A (p.His2465Asn)
NM_005529.7(HSPG2):c.7438C>G (p.Arg2480Gly)
NM_005529.7(HSPG2):c.7481C>A (p.Thr2494Asn)
NM_005529.7(HSPG2):c.7499A>G (p.Glu2500Gly)
NM_005529.7(HSPG2):c.7513G>A (p.Val2505Met)
NM_005529.7(HSPG2):c.7556C>T (p.Thr2519Ile)
NM_005529.7(HSPG2):c.7598C>G (p.Ala2533Gly)
NM_005529.7(HSPG2):c.7609C>T (p.Arg2537Cys)
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.775G>C (p.Glu259Gln)
NM_005529.7(HSPG2):c.7789G>A (p.Glu2597Lys)
NM_005529.7(HSPG2):c.7882G>A (p.Val2628Ile)
NM_005529.7(HSPG2):c.7899G>C (p.Arg2633Ser)
NM_005529.7(HSPG2):c.7903G>A (p.Glu2635Lys)
NM_005529.7(HSPG2):c.7937C>G (p.Thr2646Ser)
NM_005529.7(HSPG2):c.7996C>T (p.Arg2666Cys)
NM_005529.7(HSPG2):c.7999G>T (p.Gly2667Trp)
NM_005529.7(HSPG2):c.803T>A (p.Val268Asp)
NM_005529.7(HSPG2):c.8051A>G (p.His2684Arg)
NM_005529.7(HSPG2):c.8089C>T (p.Arg2697Trp)
NM_005529.7(HSPG2):c.8090G>A (p.Arg2697Gln)
NM_005529.7(HSPG2):c.8246T>C (p.Val2749Ala)
NM_005529.7(HSPG2):c.826C>G (p.Leu276Val)
NM_005529.7(HSPG2):c.8329C>T (p.Arg2777Trp)
NM_005529.7(HSPG2):c.8383G>T (p.Val2795Leu)
NM_005529.7(HSPG2):c.8489G>A (p.Arg2830His)
NM_005529.7(HSPG2):c.8510G>A (p.Arg2837Gln)
NM_005529.7(HSPG2):c.8566G>A (p.Ala2856Thr)
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln) rs111846397
NM_005529.7(HSPG2):c.8609G>C (p.Arg2870Pro) rs111846397
NM_005529.7(HSPG2):c.8668G>A (p.Glu2890Lys)
NM_005529.7(HSPG2):c.8675C>T (p.Ser2892Leu)
NM_005529.7(HSPG2):c.8716G>T (p.Val2906Phe)
NM_005529.7(HSPG2):c.8728A>G (p.Ile2910Val)
NM_005529.7(HSPG2):c.8777C>T (p.Pro2926Leu)
NM_005529.7(HSPG2):c.8806G>A (p.Val2936Met)
NM_005529.7(HSPG2):c.8861C>T (p.Ala2954Val)
NM_005529.7(HSPG2):c.8935C>T (p.His2979Tyr)
NM_005529.7(HSPG2):c.8962G>A (p.Glu2988Lys)
NM_005529.7(HSPG2):c.9097G>A (p.Val3033Met)
NM_005529.7(HSPG2):c.9137A>G (p.His3046Arg)
NM_005529.7(HSPG2):c.9163G>C (p.Glu3055Gln)
NM_005529.7(HSPG2):c.9199G>A (p.Val3067Ile)
NM_005529.7(HSPG2):c.9238G>T (p.Gly3080Cys)
NM_005529.7(HSPG2):c.9269G>A (p.Arg3090His)
NM_005529.7(HSPG2):c.9274G>C (p.Val3092Leu)
NM_005529.7(HSPG2):c.9364G>A (p.Val3122Met)
NM_005529.7(HSPG2):c.9433C>T (p.Arg3145Cys)
NM_005529.7(HSPG2):c.9443G>A (p.Arg3148Gln)
NM_005529.7(HSPG2):c.964C>G (p.Pro322Ala)
NM_005529.7(HSPG2):c.9671A>G (p.Glu3224Gly)
NM_005529.7(HSPG2):c.9683C>T (p.Thr3228Met)
NM_005529.7(HSPG2):c.9709+3G>A
NM_005529.7(HSPG2):c.9811C>G (p.Gln3271Glu)
NM_005529.7(HSPG2):c.9883G>A (p.Val3295Met)
NM_005529.7(HSPG2):c.9926C>T (p.Ser3309Leu)
NM_005529.7(HSPG2):c.9941A>G (p.Glu3314Gly)
NM_005529.7(HSPG2):c.9986C>T (p.Thr3329Ile)

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