ClinVar Miner

Variants in gene HSPG2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2372 589 0 130 114 0 1 226

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 0 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 0 1 0 109 22
likely benign 0 0 109 0 120
benign 0 0 22 120 0

All variants with conflicting interpretations #

Total variants: 226
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=) rs41310390 0.04950
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01837
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01369
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_005529.7(HSPG2):c.2558+17G>T rs74060201 0.01206
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01202
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01104
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00969
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00852
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00839
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr) rs2501264 0.00699
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_005529.7(HSPG2):c.3967C>G (p.Leu1323Val) rs10917058 0.00622
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00611
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00609
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00575
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_005529.7(HSPG2):c.12012C>T (p.Ser4004=) rs16825967 0.00468
NM_005529.7(HSPG2):c.1998+9C>T rs377228309 0.00461
NM_005529.7(HSPG2):c.5454C>T (p.Ala1818=) rs142538286 0.00432
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
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.789G>A (p.Met263Ile) rs142194150 0.00398
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_005529.7(HSPG2):c.4176T>C (p.His1392=) rs62642526 0.00369
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
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.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00310
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His) rs62642535 0.00302
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00284
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00283
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=) rs139001173 0.00265
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00248
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.2462C>T (p.Ala821Val) rs141901178 0.00231
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00227
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00219
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=) rs143431746 0.00217
NM_005529.7(HSPG2):c.3889-10G>A rs147334960 0.00211
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00199
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00196
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_005529.7(HSPG2):c.355-14G>C rs372356869 0.00185
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572 0.00182
NM_005529.7(HSPG2):c.4437G>A (p.Glu1479=) rs141463803 0.00180
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile) rs138460117 0.00171
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00171
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00168
NM_005529.7(HSPG2):c.2586C>T (p.Pro862=) rs143110975 0.00161
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00129
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00120
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=) rs138980184 0.00118
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00110
NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr) rs142071466 0.00106
NM_005529.7(HSPG2):c.10204G>C (p.Val3402Leu) rs150666616 0.00105
NM_005529.7(HSPG2):c.3744-8C>T rs368626586 0.00101
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=) rs372318754 0.00101
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00099
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00099
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00098
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00096
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00093
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00088
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00087
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00085
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00084
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_005529.7(HSPG2):c.8325C>T (p.Gly2775=) rs142011049 0.00081
NM_005529.7(HSPG2):c.5433C>T (p.Asn1811=) rs140134749 0.00080
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00072
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00066
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser) rs113695182 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.9564G>C (p.Gln3188His) rs149644947 0.00060
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00057
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00055
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
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.11256G>A (p.Leu3752=) rs144122107 0.00050
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00048
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005529.7(HSPG2):c.3280G>A (p.Ala1094Thr) rs200196481 0.00045
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
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.10365C>T (p.Asn3455=) rs189103460 0.00037
NM_005529.7(HSPG2):c.8504C>A (p.Ser2835Tyr) rs146505513 0.00035
NM_005529.7(HSPG2):c.1359G>A (p.Val453=) rs147812691 0.00031
NM_005529.7(HSPG2):c.7283G>T (p.Gly2428Val) rs561723497 0.00031
NM_005529.7(HSPG2):c.87C>T (p.Tyr29=) rs368430410 0.00031
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00030
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=) rs141435008 0.00029
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=) rs536882233 0.00027
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_005529.7(HSPG2):c.2685+6C>T rs189296705 0.00026
NM_005529.7(HSPG2):c.9030G>A (p.Pro3010=) rs202067055 0.00026
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=) rs371397998 0.00025
NM_005529.7(HSPG2):c.9411C>T (p.Ala3137=) rs533824462 0.00025
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=) rs138957986 0.00024
NM_005529.7(HSPG2):c.8025+20C>T rs146363738 0.00024
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.4551G>A (p.Gly1517=) rs142288625 0.00022
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys) rs200997062 0.00019
NM_005529.7(HSPG2):c.5646G>A (p.Leu1882=) rs533624001 0.00017
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00017
NM_005529.7(HSPG2):c.10721-2dup rs546706122 0.00016
NM_005529.7(HSPG2):c.11001G>A (p.Thr3667=) rs147966644 0.00016
NM_005529.7(HSPG2):c.12354G>A (p.Thr4118=) rs371885206 0.00016
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr) rs139719757 0.00016
NM_005529.7(HSPG2):c.6346G>A (p.Val2116Met) rs146462440 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005529.7(HSPG2):c.10025G>A (p.Arg3342Lys) rs570850437 0.00014
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=) rs182418174 0.00014
NM_005529.7(HSPG2):c.1372G>A (p.Glu458Lys) rs531029732 0.00013
NM_005529.7(HSPG2):c.3857A>G (p.Gln1286Arg) rs199788526 0.00013
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 0.00013
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=) rs372321167 0.00013
NM_005529.7(HSPG2):c.3543C>T (p.His1181=) rs375029322 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=) rs375290305 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln) rs146428410 0.00011
NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=) rs150600286 0.00010
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.5815G>A (p.Ala1939Thr) rs145474376 0.00010
NM_005529.7(HSPG2):c.8667C>T (p.Gly2889=) rs138583401 0.00010
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=) rs189837148 0.00009
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=) rs139220302 0.00009
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=) rs368047383 0.00009
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00009
NM_005529.7(HSPG2):c.1507+9G>A rs371371189 0.00008
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=) rs376929779 0.00008
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00007
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 0.00007
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00007
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=) rs781013408 0.00007
NM_005529.7(HSPG2):c.11770+10G>A rs746954804 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.12487C>T (p.Arg4163Cys) rs139743858 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr) rs370487132 0.00006
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=) rs534949106 0.00006
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.6134-4C>T rs768569958 0.00005
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=) rs149466423 0.00004
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00004
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00004
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=) rs200462415 0.00004
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr) rs201508804 0.00004
NM_005529.7(HSPG2):c.12221G>A (p.Arg4074His) rs376190109 0.00003
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His) rs375600124 0.00003
NM_005529.7(HSPG2):c.9033_9034del (p.Pro3011_Ser3012insTer) rs1318029350 0.00003
NM_005529.7(HSPG2):c.10151-4G>A rs763324083 0.00002
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=) rs769398456 0.00002
NM_005529.7(HSPG2):c.9072C>T (p.Ile3024=) rs776013099 0.00002
NM_005529.7(HSPG2):c.11208-7G>A rs1336552092 0.00001
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter) rs759220039 0.00001
NM_005529.7(HSPG2):c.253C>T (p.Arg85Ter) rs747493127 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.2856C>T (p.His952=) rs753151119 0.00001
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=) rs886042933 0.00001
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=) rs540961117 0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter) rs745338204 0.00001
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=) rs886044168 0.00001
NM_005529.7(HSPG2):c.8646G>T (p.Gln2882His) rs548583670 0.00001
NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter) rs898553156 0.00001
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.11671+10C>T rs540252244
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.1219dup (p.Gln407fs) rs763945561
NM_005529.7(HSPG2):c.1818+9C>T rs901499998
NM_005529.7(HSPG2):c.3119_3120dup (p.His1041fs) rs1227714952
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.3707C>T (p.Ala1236Val) rs113652076
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter) rs1393101824
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=) rs1639253483
NM_005529.7(HSPG2):c.5997+13del rs529255698
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005529.7(HSPG2):c.7158+7G>A
NM_005529.7(HSPG2):c.7209C>T (p.Gly2403=) rs770212594
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8151C>A (p.Ala2717=) rs140067347
NM_005529.7(HSPG2):c.8316+3A>G rs1057521178
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln) rs111846397
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395

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