ClinVar Miner

Variants in gene HSPG2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 91
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HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_005529.7(HSPG2):c.745G>A (p.Val249Met) rs148066529 0.00101
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=) rs111558823 0.00084
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
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.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser) rs113695182 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.11256G>A (p.Leu3752=) rs144122107 0.00053
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp) rs553885469 0.00051
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_005529.7(HSPG2):c.8504C>A (p.Ser2835Tyr) rs146505513 0.00035
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val) rs754643779 0.00031
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=) rs536882233 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met) rs139855779 0.00027
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=) rs138957986 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.8025+20C>T rs146363738 0.00023
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys) rs200997062 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys) rs373448635 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.11481C>T (p.Gly3827=) rs150600286 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.5628A>G (p.Thr1876=) rs368047383 0.00011
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His) rs189089389 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.8076C>T (p.Gly2692=) rs372321167 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.11770+10G>A rs746954804 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 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.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=) rs149466423 0.00004
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00004
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 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.2520C>T (p.Asp840=) rs544565016 0.00003
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00003
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=) rs769398456 0.00002
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 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.8199A>G (p.Ser2733=) rs886044168 0.00001
NM_005529.7(HSPG2):c.10151-4G>A
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
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.5925G>A (p.Leu1975=)
NM_005529.7(HSPG2):c.6134-4C>T
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro) rs149319607
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln) rs111846397
NM_005529.7(HSPG2):c.8646G>T (p.Gln2882His) rs548583670
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=)

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