ClinVar Miner

List of variants reported as uncertain significance for Schwartz-Jampel syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 545
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_001127671.2(LIFR):c.*6395T>C rs141407987 0.00474
NM_001127671.2(LIFR):c.*1474T>G rs567565130 0.00421
NM_001127671.2(LIFR):c.*5060T>A rs183333459 0.00406
NM_001127671.2(LIFR):c.*1540A>G rs547319835 0.00401
NM_001127671.2(LIFR):c.*3748T>C rs144332222 0.00305
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00245
NM_002310.6(LIFR):c.-129T>G rs55892837 0.00223
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_001127671.2(LIFR):c.*6100G>A rs188682396 0.00145
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_001127671.2(LIFR):c.*320C>T rs149357204 0.00114
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) rs142071466 0.00103
NM_001127671.2(LIFR):c.*3449G>T rs147793103 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) rs140538535 0.00097
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00092
NM_005529.7(HSPG2):c.4740+14G>A rs370407461 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser) rs137904249 0.00079
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_001127671.2(LIFR):c.*4405G>C rs191397058 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_005529.7(HSPG2):c.7954G>A (p.Val2652Met) rs190732238 0.00062
NM_001127671.2(LIFR):c.*1779A>G rs533737306 0.00058
NM_001127671.2(LIFR):c.*2042A>G rs551424232 0.00057
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975 0.00056
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=) rs141936971 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_005529.7(HSPG2):c.7956G>A (p.Val2652=) rs145265774 0.00053
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.7158+11G>A rs374680668 0.00049
NM_001127671.2(LIFR):c.*4024G>A rs140501581 0.00047
NM_005529.7(HSPG2):c.4972G>A (p.Val1658Met) rs143523507 0.00047
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_001127671.2(LIFR):c.*4414G>A rs542094343 0.00045
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg) rs146856673 0.00044
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg) rs145091234 0.00043
NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val) rs144606459 0.00042
NM_001127671.2(LIFR):c.263G>A (p.Arg88His) rs61751711 0.00042
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.10365C>T (p.Asn3455=) rs189103460 0.00037
NM_005529.7(HSPG2):c.931G>C (p.Glu311Gln) rs200992640 0.00035
NM_001013693.3(LDLRAD2):c.*572G>A rs752420673 0.00034
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met) rs150648539 0.00034
NM_005529.7(HSPG2):c.9710-10G>A rs369434104 0.00034
NM_001127671.2(LIFR):c.*5925C>A rs571064663 0.00032
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
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.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) rs146286188 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_001013693.3(LDLRAD2):c.*284C>T rs549986026 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_005529.7(HSPG2):c.12886G>C (p.Val4296Leu) rs144217842 0.00026
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=) rs202067055 0.00026
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_001013693.3(LDLRAD2):c.*420G>A rs754815327 0.00024
NM_001127671.2(LIFR):c.*1859A>C rs772252918 0.00024
NM_001127671.2(LIFR):c.*1860T>G rs748353397 0.00024
NM_002310.6(LIFR):c.-90T>C rs559787973 0.00024
NM_005529.7(HSPG2):c.2685+6C>T rs189296705 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00022
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys) rs143210045 0.00022
NM_005529.7(HSPG2):c.4551G>A (p.Gly1517=) rs142288625 0.00022
NM_001127671.2(LIFR):c.*984T>C rs558681338 0.00020
NM_005529.7(HSPG2):c.878G>A (p.Arg293His) rs139873789 0.00020
NM_001127671.2(LIFR):c.*2464C>G rs140583327 0.00019
NM_001127671.2(LIFR):c.*517T>C rs889691332 0.00019
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp) rs145185113 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln) rs368627489 0.00018
NM_001013693.3(LDLRAD2):c.*1081C>T rs568643216 0.00017
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) rs147966644 0.00017
NM_005529.7(HSPG2):c.11568C>T (p.Gly3856=) rs200221194 0.00017
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_001127671.2(LIFR):c.*6380G>C rs963712767 0.00015
NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys) rs61751712 0.00015
NM_001127671.2(LIFR):c.*4618T>C rs576106981 0.00014
NM_001127671.2(LIFR):c.562-12G>A rs551186831 0.00014
NM_005529.7(HSPG2):c.11751G>A (p.Ser3917=) rs144447618 0.00014
NM_005529.7(HSPG2):c.1546G>A (p.Ala516Thr) rs147557804 0.00014
NM_005529.7(HSPG2):c.6071T>A (p.Leu2024His) rs145943896 0.00014
NM_005529.7(HSPG2):c.6491C>T (p.Ala2164Val) rs371812575 0.00014
NM_001127671.2(LIFR):c.2671-10T>G rs201596849 0.00013
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.4575C>T (p.Leu1525=) rs140056847 0.00013
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile) rs763773500 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_005529.7(HSPG2):c.8374G>A (p.Val2792Met) rs377625016 0.00013
NM_001013693.3(LDLRAD2):c.*998C>T rs777311066 0.00012
NM_001127671.2(LIFR):c.*393G>T rs779132960 0.00012
NM_001127671.2(LIFR):c.*5004A>G rs758275090 0.00012
NM_002310.6(LIFR):c.-139G>A rs373489850 0.00012
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp) rs373299826 0.00012
NM_005529.7(HSPG2):c.3543C>T (p.His1181=) rs375029322 0.00012
NM_005529.7(HSPG2):c.6468C>T (p.Ile2156=) rs369970075 0.00012
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00012
NM_001127671.2(LIFR):c.*1198C>T rs775264074 0.00011
NM_001127671.2(LIFR):c.*2697A>G rs886060617 0.00011
NM_001127671.2(LIFR):c.*3375A>G rs778888227 0.00011
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met) rs368497178 0.00011
NM_005529.7(HSPG2):c.4135G>A (p.Gly1379Ser) rs778185997 0.00011
NM_005529.7(HSPG2):c.4681G>A (p.Glu1561Lys) rs372608187 0.00011
NM_005529.7(HSPG2):c.6917C>T (p.Ala2306Val) rs758311848 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.8212G>A (p.Val2738Met) rs144862631 0.00011
NM_005529.7(HSPG2):c.9770G>A (p.Arg3257Gln) rs202018841 0.00011
NM_005529.7(HSPG2):c.9908C>T (p.Thr3303Met) rs150109595 0.00011
NM_001013693.3(LDLRAD2):c.*883C>T rs561927299 0.00010
NM_001127671.2(LIFR):c.*1302T>G rs886060621 0.00010
NM_001127671.2(LIFR):c.*368A>C rs886060625 0.00010
NM_001127671.2(LIFR):c.*6248C>G rs560182899 0.00010
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 0.00010
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys) rs757541406 0.00010
NM_005529.7(HSPG2):c.13153A>G (p.Asn4385Asp) rs752793818 0.00010
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 0.00010
NM_005529.7(HSPG2):c.2792G>A (p.Arg931His) rs372407090 0.00010
NM_005529.7(HSPG2):c.3591C>T (p.Asp1197=) rs544392697 0.00010
NM_005529.7(HSPG2):c.4900G>A (p.Gly1634Ser) rs372033039 0.00010
NM_001013693.3(LDLRAD2):c.*1056C>T rs541474662 0.00009
NM_001013693.3(LDLRAD2):c.*502T>G rs886046026 0.00009
NM_001127671.2(LIFR):c.*1086A>C rs567657966 0.00009
NM_001127671.2(LIFR):c.*262A>G rs763998777 0.00009
NM_001127671.2(LIFR):c.*3182G>A rs758192947 0.00009
NM_001127671.2(LIFR):c.*3470G>T rs886467983 0.00009
NM_001127671.2(LIFR):c.*443C>T rs1011411405 0.00009
NM_001127671.2(LIFR):c.*4801A>G rs555849365 0.00009
NM_001127671.2(LIFR):c.*657C>T rs938116389 0.00009
NM_002310.6(LIFR):c.-118G>A rs573436558 0.00009
NM_005529.7(HSPG2):c.2367G>A (p.Gly789=) rs151039517 0.00009
NM_005529.7(HSPG2):c.6952G>A (p.Glu2318Lys) rs372259670 0.00009
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr) rs148674648 0.00009
NM_005529.7(HSPG2):c.8805C>T (p.His2935=) rs201338722 0.00009
NM_005529.7(HSPG2):c.8847C>T (p.Pro2949=) rs371076634 0.00009
NM_005529.7(HSPG2):c.9284A>G (p.Asn3095Ser) rs765463910 0.00009
NM_005529.7(HSPG2):c.1411G>C (p.Glu471Gln) rs201765006 0.00008
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His) rs373895855 0.00008
NM_005529.7(HSPG2):c.7138A>C (p.Ser2380Arg) rs767635632 0.00008
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val) rs140197256 0.00008
NM_001127671.2(LIFR):c.*2611C>T rs905926604 0.00007
NM_001127671.2(LIFR):c.*4346G>A rs184642499 0.00007
NM_001127671.2(LIFR):c.*4841G>A rs1307069696 0.00007
NM_001127671.2(LIFR):c.1338A>G (p.Ser446=) rs770514781 0.00007
NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile) rs760903325 0.00007
NM_005529.7(HSPG2):c.10589G>A (p.Arg3530Gln) rs200062985 0.00007
NM_005529.7(HSPG2):c.4227G>A (p.Ala1409=) rs369731617 0.00007
NM_005529.7(HSPG2):c.6660G>C (p.Val2220=) rs368431013 0.00007
NM_001013693.3(LDLRAD2):c.*277G>A rs774542904 0.00006
NM_001127671.2(LIFR):c.*10C>T rs764112814 0.00006
NM_001127671.2(LIFR):c.*5107A>G rs1035465616 0.00006
NM_001127671.2(LIFR):c.*5184G>A rs886060609 0.00006
NM_001127671.2(LIFR):c.*933G>A rs578231637 0.00006
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=) rs142392717 0.00006
NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala) rs764878525 0.00006
NM_005529.7(HSPG2):c.10096C>T (p.Arg3366Trp) rs139956831 0.00006
NM_005529.7(HSPG2):c.10144G>A (p.Val3382Ile) rs147177951 0.00006
NM_005529.7(HSPG2):c.10325C>T (p.Pro3442Leu) rs763711047 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005529.7(HSPG2):c.13172C>T (p.Ser4391Leu) rs961325868 0.00006
NM_005529.7(HSPG2):c.1494C>T (p.Leu498=) rs187648591 0.00006
NM_005529.7(HSPG2):c.1508-9G>A rs538216424 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005529.7(HSPG2):c.3183+10A>T rs368807853 0.00006
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln) rs757410321 0.00006
NM_005529.7(HSPG2):c.7606G>A (p.Val2536Ile) rs372633230 0.00006
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg) rs375390882 0.00006
NM_005529.7(HSPG2):c.8759-13C>T rs139605410 0.00006
NM_001127671.2(LIFR):c.*1968A>C rs759458908 0.00005
NM_001127671.2(LIFR):c.1972G>A (p.Val658Ile) rs199637361 0.00005
NM_005529.7(HSPG2):c.10981C>T (p.Arg3661Trp) rs746678863 0.00005
NM_005529.7(HSPG2):c.11712C>T (p.Asp3904=) rs145093233 0.00005
NM_005529.7(HSPG2):c.2008G>A (p.Val670Ile) rs147810145 0.00005
NM_005529.7(HSPG2):c.4654G>A (p.Gly1552Arg) rs746057768 0.00005
NM_005529.7(HSPG2):c.5657G>A (p.Arg1886His) rs370745167 0.00005
NM_005529.7(HSPG2):c.598A>T (p.Thr200Ser) rs199604790 0.00005
NM_005529.7(HSPG2):c.7130G>A (p.Arg2377His) rs191687773 0.00005
NM_005529.7(HSPG2):c.959-7C>T rs529027225 0.00005
NM_001013693.3(LDLRAD2):c.*762G>T rs575761790 0.00004
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys) rs373421600 0.00004
NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln) rs202048083 0.00004
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val) rs994405607 0.00004
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=) rs745548189 0.00004
NM_005529.7(HSPG2):c.1078+11G>A rs373529899 0.00004
NM_005529.7(HSPG2):c.12007C>T (p.Arg4003Trp) rs529517544 0.00004
NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=) rs568526447 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.245-11C>T rs377063208 0.00004
NM_005529.7(HSPG2):c.2747G>A (p.Arg916Gln) rs369313904 0.00004
NM_005529.7(HSPG2):c.3003+14G>A rs369278427 0.00004
NM_005529.7(HSPG2):c.3545C>T (p.Thr1182Met) rs748529459 0.00004
NM_005529.7(HSPG2):c.3556C>T (p.Arg1186Trp) rs113743582 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.4576G>A (p.Glu1526Lys) rs767254154 0.00004
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln) rs377462320 0.00004
NM_005529.7(HSPG2):c.599C>T (p.Thr200Met) rs201288550 0.00004
NM_005529.7(HSPG2):c.6110G>A (p.Arg2037Gln) rs760003870 0.00004
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn) rs780545355 0.00004
NM_005529.7(HSPG2):c.6842G>A (p.Arg2281His) rs545161793 0.00004
NM_005529.7(HSPG2):c.7346C>T (p.Ala2449Val) rs375141478 0.00004
NM_005529.7(HSPG2):c.758C>G (p.Ser253Cys) rs181945618 0.00004
NM_005529.7(HSPG2):c.8163C>T (p.Ser2721=) rs768337273 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005529.7(HSPG2):c.8287C>T (p.Arg2763Cys) rs775757447 0.00004
NM_005529.7(HSPG2):c.8431G>A (p.Glu2811Lys) rs61747612 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.9563A>C (p.Gln3188Pro) rs758584149 0.00004
NM_001127671.2(LIFR):c.*1643G>A rs1009323722 0.00003
NM_001127671.2(LIFR):c.*212T>C rs1350790157 0.00003
NM_001127671.2(LIFR):c.*2476G>T rs555848744 0.00003
NM_001127671.2(LIFR):c.*2746T>A rs1290128552 0.00003
NM_001127671.2(LIFR):c.*3753G>C rs1432917321 0.00003
NM_001127671.2(LIFR):c.*6226A>G rs1274222770 0.00003
NM_001127671.2(LIFR):c.*6564C>T rs566612340 0.00003
NM_001127671.2(LIFR):c.*972C>T rs1368133920 0.00003
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=) rs767618083 0.00003
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=) rs570053542 0.00003
NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser) rs199505838 0.00003
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732 0.00003
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 0.00003
NM_005529.7(HSPG2):c.10355+13G>A rs749712460 0.00003
NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His) rs376190109 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.4434C>T (p.Arg1478=) rs767789034 0.00003
NM_005529.7(HSPG2):c.4887G>A (p.Glu1629=) rs745452531 0.00003
NM_005529.7(HSPG2):c.4899C>T (p.Ala1633=) rs775314207 0.00003
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) rs368801694 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_005529.7(HSPG2):c.5998-5G>A rs764410384 0.00003
NM_005529.7(HSPG2):c.6010C>T (p.Arg2004Cys) rs777591903 0.00003
NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=) rs752099132 0.00003
NM_005529.7(HSPG2):c.7610G>A (p.Arg2537His) rs752745046 0.00003
NM_005529.7(HSPG2):c.8026-10G>T rs377601366 0.00003
NM_005529.7(HSPG2):c.8882G>A (p.Arg2961His) rs202072683 0.00003
NM_005529.7(HSPG2):c.9096C>T (p.Thr3032=) rs749580877 0.00003
NM_005529.7(HSPG2):c.9175C>T (p.Arg3059Trp) rs760017518 0.00003
NM_005529.7(HSPG2):c.9604G>A (p.Val3202Met) rs760284909 0.00003
NM_005529.7(HSPG2):c.9890-4T>G rs770388964 0.00003
NM_001013693.3(LDLRAD2):c.*1003C>T rs543277819 0.00002
NM_001013693.3(LDLRAD2):c.*33G>A rs371757519 0.00002
NM_001127671.2(LIFR):c.*1051C>T rs189674684 0.00002
NM_001127671.2(LIFR):c.*1468T>G rs886060620 0.00002
NM_001127671.2(LIFR):c.*4020T>G rs968785250 0.00002
NM_001127671.2(LIFR):c.*4735C>A rs201856141 0.00002
NM_001127671.2(LIFR):c.*5667T>C rs886060607 0.00002
NM_001127671.2(LIFR):c.*6041_*6042insTTA rs542021288 0.00002
NM_001127671.2(LIFR):c.*648C>G rs886060624 0.00002
NM_001127671.2(LIFR):c.*966T>G rs886060623 0.00002
NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu) rs763060076 0.00002
NM_001127671.2(LIFR):c.16G>A (p.Val6Ile) rs373771721 0.00002
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323 0.00002
NM_001127671.2(LIFR):c.2692T>C (p.Leu898=) rs890810298 0.00002
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr) rs770022153 0.00002
NM_001127671.2(LIFR):c.3279C>T (p.Asn1093=) rs754371834 0.00002
NM_002310.6(LIFR):c.-28G>A rs886060632 0.00002
NM_005529.7(HSPG2):c.10032C>T (p.Thr3344=) rs373818366 0.00002
NM_005529.7(HSPG2):c.10249G>A (p.Val3417Ile) rs369282867 0.00002
NM_005529.7(HSPG2):c.10272C>T (p.Pro3424=) rs762130127 0.00002
NM_005529.7(HSPG2):c.10863G>A (p.Leu3621=) rs576324046 0.00002
NM_005529.7(HSPG2):c.11649G>A (p.Ser3883=) rs367617288 0.00002
NM_005529.7(HSPG2):c.12751G>A (p.Gly4251Arg) rs1383334331 0.00002
NM_005529.7(HSPG2):c.3732T>C (p.Arg1244=) rs572839851 0.00002
NM_005529.7(HSPG2):c.4396-12C>A rs747704697 0.00002
NM_005529.7(HSPG2):c.5516T>C (p.Val1839Ala) rs751036475 0.00002
NM_005529.7(HSPG2):c.5599G>A (p.Val1867Met) rs1432356929 0.00002
NM_005529.7(HSPG2):c.5701+8C>T rs370899852 0.00002
NM_005529.7(HSPG2):c.5848G>A (p.Val1950Met) rs761763385 0.00002
NM_005529.7(HSPG2):c.64-12G>A rs777907037 0.00002
NM_005529.7(HSPG2):c.780A>T (p.Thr260=) rs767835991 0.00002
NM_005529.7(HSPG2):c.8397T>G (p.Ser2799=) rs186657949 0.00002
NM_005529.7(HSPG2):c.958+5G>A rs537939062 0.00002
NM_001013693.3(LDLRAD2):c.*451C>T rs927771131 0.00001
NM_001127671.2(LIFR):c.*2437A>G rs925267459 0.00001
NM_001127671.2(LIFR):c.*2585T>A rs1284035304 0.00001
NM_001127671.2(LIFR):c.*2825G>A rs952292818 0.00001
NM_001127671.2(LIFR):c.*3085G>T rs552475268 0.00001
NM_001127671.2(LIFR):c.*3162T>G rs1743825125 0.00001
NM_001127671.2(LIFR):c.*3563T>C rs1219109807 0.00001
NM_001127671.2(LIFR):c.*3852C>G rs1238336955 0.00001
NM_001127671.2(LIFR):c.*415A>G rs1579990996 0.00001
NM_001127671.2(LIFR):c.*4264T>G rs886060615 0.00001
NM_001127671.2(LIFR):c.*4438A>G rs886060613 0.00001
NM_001127671.2(LIFR):c.*4799A>G rs1392993911 0.00001
NM_001127671.2(LIFR):c.*5421A>G rs1393635624 0.00001
NM_001127671.2(LIFR):c.*6483C>A rs771210595 0.00001
NM_001127671.2(LIFR):c.*987C>T rs886060622 0.00001
NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn) rs753566378 0.00001
NM_001127671.2(LIFR):c.1194A>G (p.Gln398=) rs1192463698 0.00001
NM_001127671.2(LIFR):c.1304C>T (p.Thr435Ile) rs764228036 0.00001
NM_001127671.2(LIFR):c.1439G>A (p.Arg480Gln) rs781727104 0.00001
NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp) rs769058491 0.00001
NM_001127671.2(LIFR):c.1776C>G (p.His592Gln) rs762360996 0.00001
NM_001127671.2(LIFR):c.2001G>A (p.Ser667=) rs1195064309 0.00001
NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser) rs767530602 0.00001
NM_001127671.2(LIFR):c.2066-14T>C rs749796645 0.00001
NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) rs767895692 0.00001
NM_001127671.2(LIFR):c.2480T>C (p.Val827Ala) rs746744753 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu) rs775530423 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001127671.2(LIFR):c.96A>G (p.Thr32=) rs771905123 0.00001
NM_005529.7(HSPG2):c.1033G>A (p.Asp345Asn) rs755218466 0.00001
NM_005529.7(HSPG2):c.10402G>A (p.Ala3468Thr) rs1013471019 0.00001
NM_005529.7(HSPG2):c.10497C>T (p.Thr3499=) rs758425905 0.00001
NM_005529.7(HSPG2):c.10831-15C>G rs761025182 0.00001
NM_005529.7(HSPG2):c.11261T>C (p.Leu3754Pro) rs771019769 0.00001
NM_005529.7(HSPG2):c.1136A>G (p.Asn379Ser) rs886046045 0.00001
NM_005529.7(HSPG2):c.11422C>T (p.Pro3808Ser) rs755818301 0.00001
NM_005529.7(HSPG2):c.11826C>T (p.Pro3942=) rs760805332 0.00001
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln) rs558798136 0.00001
NM_005529.7(HSPG2):c.12016G>A (p.Glu4006Lys) rs113448590 0.00001
NM_005529.7(HSPG2):c.12345T>G (p.His4115Gln) rs1219506394 0.00001
NM_005529.7(HSPG2):c.13000A>G (p.Ile4334Val) rs779443131 0.00001
NM_005529.7(HSPG2):c.13032C>T (p.Thr4344=) rs778590896 0.00001
NM_005529.7(HSPG2):c.1508-15C>T rs750306743 0.00001
NM_005529.7(HSPG2):c.1609C>T (p.Arg537Trp) rs777781736 0.00001
NM_005529.7(HSPG2):c.1676C>G (p.Ala559Gly) rs748179999 0.00001
NM_005529.7(HSPG2):c.1762C>T (p.Arg588Cys) rs778444704 0.00001
NM_005529.7(HSPG2):c.1903G>A (p.Val635Met) rs558525559 0.00001
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val) rs374004974 0.00001
NM_005529.7(HSPG2):c.2092T>C (p.Tyr698His) rs773784309 0.00001
NM_005529.7(HSPG2):c.2147T>C (p.Val716Ala) rs374685217 0.00001
NM_005529.7(HSPG2):c.2195+4C>A rs1641399279 0.00001
NM_005529.7(HSPG2):c.2421G>A (p.Thr807=) rs148592148 0.00001
NM_005529.7(HSPG2):c.2568C>T (p.Pro856=) rs886046042 0.00001
NM_005529.7(HSPG2):c.2641G>A (p.Glu881Lys) rs768350322 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.2822C>T (p.Ala941Val) rs1042462225 0.00001
NM_005529.7(HSPG2):c.3196C>T (p.Arg1066Trp) rs145498664 0.00001
NM_005529.7(HSPG2):c.3357C>T (p.Pro1119=) rs765575912 0.00001
NM_005529.7(HSPG2):c.3649G>C (p.Ala1217Pro) rs757364480 0.00001
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg) rs1021698423 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_005529.7(HSPG2):c.4299C>T (p.Pro1433=) rs768475262 0.00001
NM_005529.7(HSPG2):c.4749G>A (p.Gln1583=) rs773098995 0.00001
NM_005529.7(HSPG2):c.4895G>C (p.Gly1632Ala) rs748997723 0.00001
NM_005529.7(HSPG2):c.5615C>T (p.Pro1872Leu) rs746717616 0.00001
NM_005529.7(HSPG2):c.5913C>T (p.Arg1971=) rs896647347 0.00001
NM_005529.7(HSPG2):c.6076G>T (p.Val2026Leu) rs886046033 0.00001
NM_005529.7(HSPG2):c.6133+12C>T rs1330380330 0.00001
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg) rs758801322 0.00001
NM_005529.7(HSPG2):c.6629C>T (p.Pro2210Leu) rs946013860 0.00001
NM_005529.7(HSPG2):c.6648T>C (p.Tyr2216=) rs756830539 0.00001
NM_005529.7(HSPG2):c.6871-10G>A rs1342636987 0.00001
NM_005529.7(HSPG2):c.7036G>A (p.Glu2346Lys) rs371523455 0.00001
NM_005529.7(HSPG2):c.7119G>A (p.Thr2373=) rs764531754 0.00001
NM_005529.7(HSPG2):c.7165G>A (p.Gly2389Ser) rs765181959 0.00001
NM_005529.7(HSPG2):c.7751G>A (p.Arg2584Gln) rs779023853 0.00001
NM_005529.7(HSPG2):c.7872C>T (p.His2624=) rs749008859 0.00001
NM_005529.7(HSPG2):c.8143C>T (p.Pro2715Ser) rs776094320 0.00001
NM_005529.7(HSPG2):c.8203T>G (p.Ser2735Ala) rs762444406 0.00001
NM_005529.7(HSPG2):c.8205C>T (p.Ser2735=) rs773139137 0.00001
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val) rs766807669 0.00001
NM_005529.7(HSPG2):c.9024C>T (p.Thr3008=) rs763389929 0.00001
NM_005529.7(HSPG2):c.9404T>A (p.Val3135Asp) rs371072729 0.00001
NM_005529.7(HSPG2):c.9594G>A (p.Val3198=) rs1460932486 0.00001
NM_005529.7(HSPG2):c.9694C>T (p.Arg3232Cys) rs767115080 0.00001
NM_001013693.3(LDLRAD2):c.*1062G>T rs936423705
NM_001013693.3(LDLRAD2):c.*166G>C rs2097953957
NM_001013693.3(LDLRAD2):c.*197C>T rs886046025
NM_001013693.3(LDLRAD2):c.*1998A>T rs2152683273
NM_001013693.3(LDLRAD2):c.*2001C>G rs2152683279
NM_001013693.3(LDLRAD2):c.*2170G>A rs1459647807
NM_001013693.3(LDLRAD2):c.*551T>C rs1347707634
NM_001013693.3(LDLRAD2):c.*702G>T rs2097955662
NM_001013693.3(LDLRAD2):c.*797C>T rs1173808135
NM_001013693.3(LDLRAD2):c.*893C>G rs886046027
NM_001127671.2(LIFR):c.*1291G>A rs767087396
NM_001127671.2(LIFR):c.*1464dup rs560124949
NM_001127671.2(LIFR):c.*1854C>T rs886060619
NM_001127671.2(LIFR):c.*1855A>T rs886060618
NM_001127671.2(LIFR):c.*1952A>G rs558503590
NM_001127671.2(LIFR):c.*1972C>T rs1227741988
NM_001127671.2(LIFR):c.*2138dup rs141563662
NM_001127671.2(LIFR):c.*2360A>C rs1461084870
NM_001127671.2(LIFR):c.*2910G>A rs368109984
NM_001127671.2(LIFR):c.*2981TATTT[1] rs540513218
NM_001127671.2(LIFR):c.*3074A>G rs2112340433
NM_001127671.2(LIFR):c.*3163T>A rs142495539
NM_001127671.2(LIFR):c.*3163T>C rs142495539
NM_001127671.2(LIFR):c.*3302T>C rs868197411
NM_001127671.2(LIFR):c.*3302T>G rs868197411
NM_001127671.2(LIFR):c.*3850T>G rs886060616
NM_001127671.2(LIFR):c.*4417A>G rs886060614
NM_001127671.2(LIFR):c.*4428T>C rs10056657
NM_001127671.2(LIFR):c.*4926_*4927del rs764162435
NM_001127671.2(LIFR):c.*4927del rs764162435
NM_001127671.2(LIFR):c.*5017A>G rs886060610
NM_001127671.2(LIFR):c.*5206A>G rs1347465930
NM_001127671.2(LIFR):c.*5542G>A rs886060608
NM_001127671.2(LIFR):c.*5768A>C rs886060606
NM_001127671.2(LIFR):c.*5793C>G rs556240742
NM_001127671.2(LIFR):c.*5796A>C rs886060605
NM_001127671.2(LIFR):c.*5986T>C rs886060604
NM_001127671.2(LIFR):c.*6386A>G rs2112328487
NM_001127671.2(LIFR):c.*6491A>G rs2112328232
NM_001127671.2(LIFR):c.*9C>A rs1743984823
NM_001127671.2(LIFR):c.-19-10C>T rs775849083
NM_001127671.2(LIFR):c.-19G>C rs2112571693
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro) rs543824186
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.1560C>T (p.Ser520=) rs1424683209
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val) rs544925449
NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly) rs121912501
NM_001127671.2(LIFR):c.183A>C (p.Gln61His) rs1243202901
NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys) rs1744714439
NM_001127671.2(LIFR):c.2262C>A (p.Gly754=) rs886060630
NM_001127671.2(LIFR):c.231T>C (p.Thr77=) rs2112564224
NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val) rs769684275
NM_001127671.2(LIFR):c.2728G>T (p.Val910Phe) rs886060629
NM_001127671.2(LIFR):c.2750T>A (p.Phe917Tyr) rs886060628
NM_001127671.2(LIFR):c.2807G>A (p.Arg936His)
NM_001127671.2(LIFR):c.2852C>T (p.Pro951Leu) rs886060627
NM_001127671.2(LIFR):c.3082T>A (p.Tyr1028Asn) rs886060626
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu) rs1745754747
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) rs2112493238
NM_001127671.2(LIFR):c.935C>A (p.Thr312Lys) rs886060631
NM_001127671.2(LIFR):c.991+10T>C rs2112491503
NM_001127671.2(LIFR):c.992-8dup rs773048780
NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu) rs746821182
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys) rs570850437
NM_005529.7(HSPG2):c.1012G>A (p.Ala338Thr) rs1641972004
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.10409G>A (p.Gly3470Glu) rs2152698051
NM_005529.7(HSPG2):c.10618G>A (p.Val3540Ile) rs372760688
NM_005529.7(HSPG2):c.10722dup (p.Pro3576fs) rs2152695644
NM_005529.7(HSPG2):c.10969C>A (p.Gln3657Lys) rs2098013447
NM_005529.7(HSPG2):c.11187G>A (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11353-13C>T rs765268891
NM_005529.7(HSPG2):c.11563-16G>A
NM_005529.7(HSPG2):c.11648C>G (p.Ser3883Trp) rs138145234
NM_005529.7(HSPG2):c.1175G>A (p.Ser392Asn) rs1217699227
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn) rs1553171928
NM_005529.7(HSPG2):c.11946G>A (p.Leu3982=) rs2097992012
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.12143T>C (p.Leu4048Pro) rs1368598061
NM_005529.7(HSPG2):c.12533-15T>C rs2097983783
NM_005529.7(HSPG2):c.12988G>A (p.Gly4330Ser) rs769986876
NM_005529.7(HSPG2):c.13101C>T (p.Gly4367=) rs1323835816
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser) rs767431377
NM_005529.7(HSPG2):c.1376G>T (p.Gly459Val) rs886046044
NM_005529.7(HSPG2):c.1601G>A (p.Arg534His) rs138259006
NM_005529.7(HSPG2):c.1654+15G>A rs886046043
NM_005529.7(HSPG2):c.1707G>A (p.Thr569=) rs151214695
NM_005529.7(HSPG2):c.1870C>T (p.Arg624Cys) rs779022485
NM_005529.7(HSPG2):c.199+14C>T rs886046047
NM_005529.7(HSPG2):c.1A>G (p.Met1Val) rs2152809610
NM_005529.7(HSPG2):c.212G>A (p.Ser71Asn) rs781177979
NM_005529.7(HSPG2):c.2251C>T (p.Arg751Trp) rs192500073
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe) rs370645398
NM_005529.7(HSPG2):c.2860A>G (p.Ser954Gly) rs1641064668
NM_005529.7(HSPG2):c.2951T>A (p.Leu984His) rs776853465
NM_005529.7(HSPG2):c.3131C>T (p.Ala1044Val) rs886046040
NM_005529.7(HSPG2):c.3132C>G (p.Ala1044=) rs759433713
NM_005529.7(HSPG2):c.3154C>T (p.Pro1052Ser) rs544172715
NM_005529.7(HSPG2):c.3183+8A>G rs886046039
NM_005529.7(HSPG2):c.3207G>A (p.Gly1069=) rs886046038
NM_005529.7(HSPG2):c.3302+15G>T rs376065244
NM_005529.7(HSPG2):c.3436C>T (p.Arg1146Cys) rs886046037
NM_005529.7(HSPG2):c.3570C>T (p.Cys1190=) rs886046036
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg) rs747787010
NM_005529.7(HSPG2):c.4129C>T (p.Pro1377Ser)
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
NM_005529.7(HSPG2):c.4314+4A>T rs1553166653
NM_005529.7(HSPG2):c.4406G>A (p.Arg1469His) rs373234129
NM_005529.7(HSPG2):c.4638C>T (p.Pro1546=) rs777118903
NM_005529.7(HSPG2):c.467C>T (p.Ala156Val) rs771803144
NM_005529.7(HSPG2):c.4868+10C>G rs886046035
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) rs745892835
NM_005529.7(HSPG2):c.5686A>C (p.Thr1896Pro) rs1192648239
NM_005529.7(HSPG2):c.5701+9G>A rs549778143
NM_005529.7(HSPG2):c.5747G>A (p.Gly1916Asp) rs868030362
NM_005529.7(HSPG2):c.5916C>T (p.Thr1972=) rs147669915
NM_005529.7(HSPG2):c.6029T>C (p.Leu2010Pro) rs886046034
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.6307C>A (p.Arg2103=) rs755167311
NM_005529.7(HSPG2):c.6487G>T (p.Val2163Leu) rs777503522
NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met) rs777069767
NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro) rs1401615464
NM_005529.7(HSPG2):c.6640G>A (p.Gly2214Ser) rs1639002819
NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=) rs565594406
NM_005529.7(HSPG2):c.7159-9T>A rs886046032
NM_005529.7(HSPG2):c.7294+9C>A rs886046031
NM_005529.7(HSPG2):c.7347C>G (p.Ala2449=) rs765923626
NM_005529.7(HSPG2):c.7411C>T (p.His2471Tyr) rs886046030
NM_005529.7(HSPG2):c.7559T>C (p.Ile2520Thr) rs900344590
NM_005529.7(HSPG2):c.7684C>T (p.Pro2562Ser) rs755215244
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8026-10G>A rs377601366
NM_005529.7(HSPG2):c.8055A>G (p.Gln2685=) rs377715367
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=) rs140067347
NM_005529.7(HSPG2):c.8224G>A (p.Glu2742Lys) rs886046029
NM_005529.7(HSPG2):c.828T>G (p.Leu276=) rs1642001864
NM_005529.7(HSPG2):c.8364G>A (p.Ser2788=) rs377366418
NM_005529.7(HSPG2):c.8458G>A (p.Val2820Ile) rs771648867
NM_005529.7(HSPG2):c.8514G>A (p.Val2838=) rs886046028
NM_005529.7(HSPG2):c.8609G>C (p.Arg2870Pro) rs111846397
NM_005529.7(HSPG2):c.8616+9G>C rs189754659
NM_005529.7(HSPG2):c.8971T>G (p.Cys2991Gly) rs745575586
NM_005529.7(HSPG2):c.9041G>T (p.Gly3014Val) rs1230028155
NM_005529.7(HSPG2):c.9300C>T (p.Ala3100=) rs2098048599
NM_005529.7(HSPG2):c.960C>T (p.Gly320=) rs886046046
NM_005529.7(HSPG2):c.9826T>C (p.Tyr3276His)
NM_005529.7(HSPG2):c.9890-7C>A rs377609659
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup) rs1345312289

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