ClinVar Miner

List of variants in gene GLIS2 studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 192
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_032575.3(GLIS2):c.*614G>A rs653539 0.10219
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
NM_032575.3(GLIS2):c.-11G>A rs28449480 0.05644
NM_032575.3(GLIS2):c.*1333C>G rs11544635 0.03314
NM_032575.3(GLIS2):c.*1203C>G rs116981725 0.03086
NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser) rs72766563 0.01854
NM_032575.3(GLIS2):c.*173G>A rs139029261 0.01688
NM_032575.3(GLIS2):c.*232T>G rs114705511 0.01317
NM_032575.3(GLIS2):c.*1130G>A rs7197512 0.01011
NM_032575.3(GLIS2):c.*916G>A rs72766567 0.00935
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_032575.3(GLIS2):c.*278C>T rs116692282 0.00854
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_032575.3(GLIS2):c.*874C>G rs147214646 0.00712
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) rs140403969 0.00608
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_032575.3(GLIS2):c.*1826C>T rs757541 0.00418
NM_032575.3(GLIS2):c.*399T>G rs189481658 0.00375
NM_032575.3(GLIS2):c.*23G>A rs146555568 0.00319
NM_032575.3(GLIS2):c.*796G>C rs111818339 0.00299
NM_032575.3(GLIS2):c.775+20C>T rs116598071 0.00297
NM_032575.3(GLIS2):c.415G>A (p.Gly139Arg) rs147175353 0.00265
NM_032575.3(GLIS2):c.*1761C>T rs370625022 0.00180
NM_032575.3(GLIS2):c.*1161G>A rs78428657 0.00175
NM_032575.3(GLIS2):c.*1988A>G rs139152543 0.00166
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu) rs140544340 0.00128
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_032575.3(GLIS2):c.*1176C>T rs150762287 0.00056
NM_032575.3(GLIS2):c.*2C>T rs144489623 0.00056
NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser) rs200720013 0.00056
NM_032575.3(GLIS2):c.*437A>C rs533863589 0.00048
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) rs202243000 0.00046
NM_032575.3(GLIS2):c.1350G>A (p.Ser450=) rs150464446 0.00046
NM_032575.3(GLIS2):c.*54C>T rs368483996 0.00042
NM_032575.3(GLIS2):c.*762C>T rs573926229 0.00037
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00036
NM_032575.3(GLIS2):c.*663C>G rs571482423 0.00032
NM_032575.3(GLIS2):c.*1095G>A rs907099780 0.00031
NM_032575.3(GLIS2):c.*43G>A rs184772323 0.00030
NM_032575.3(GLIS2):c.1569G>A (p.Val523=) rs371022001 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00025
NM_032575.3(GLIS2):c.1023C>T (p.Ala341=) rs777660944 0.00024
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser) rs775114398 0.00024
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) rs150810544 0.00023
NM_032575.3(GLIS2):c.*199G>A rs766877335 0.00019
NM_032575.3(GLIS2):c.*1830C>T rs578236633 0.00013
NM_032575.3(GLIS2):c.*12G>A rs201860422 0.00011
NM_032575.3(GLIS2):c.*881C>T rs540618522 0.00011
NM_032575.3(GLIS2):c.304C>T (p.Arg102Cys) rs371434004 0.00011
NM_032575.3(GLIS2):c.505G>A (p.Val169Met) rs144844035 0.00011
NM_032575.3(GLIS2):c.651C>T (p.Asn217=) rs140609747 0.00011
NM_032575.3(GLIS2):c.1326C>T (p.Ala442=) rs767819594 0.00010
NM_032575.3(GLIS2):c.291G>A (p.Ser97=) rs529581775 0.00010
NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg) rs759416922 0.00009
NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg) rs199849300 0.00009
NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu) rs374332556 0.00007
NM_032575.3(GLIS2):c.*1465G>A rs762692214 0.00006
NM_032575.3(GLIS2):c.*757G>A rs556283047 0.00006
NM_032575.3(GLIS2):c.*856C>T rs886051996 0.00006
NM_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_032575.3(GLIS2):c.995G>A (p.Arg332His) rs148236093 0.00006
NM_032575.3(GLIS2):c.*1082G>A rs886051999 0.00005
NM_032575.3(GLIS2):c.*551C>G rs886051992 0.00005
NM_032575.3(GLIS2):c.*712C>G rs886051995 0.00005
NM_032575.3(GLIS2):c.*902C>T rs971389433 0.00005
NM_032575.3(GLIS2):c.1026C>T (p.Pro342=) rs753999588 0.00005
NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser) rs758967813 0.00005
NM_032575.3(GLIS2):c.1245G>A (p.Pro415=) rs755435780 0.00005
NM_032575.3(GLIS2):c.414C>T (p.Ser138=) rs145025457 0.00005
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_032575.3(GLIS2):c.*1150C>T rs893552507 0.00004
NM_032575.3(GLIS2):c.*1553G>A rs1434276419 0.00004
NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu) rs751855769 0.00004
NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met) rs138285254 0.00004
NM_032575.3(GLIS2):c.1539G>A (p.Pro513=) rs769088578 0.00004
NM_032575.3(GLIS2):c.546G>A (p.Leu182=) rs182526202 0.00004
NM_032575.3(GLIS2):c.801C>T (p.Tyr267=) rs527861451 0.00004
NM_032575.3(GLIS2):c.*1791T>C rs886052003 0.00003
NM_032575.3(GLIS2):c.*525C>T rs886051991 0.00003
NM_032575.3(GLIS2):c.*632G>A rs886051994 0.00003
NM_032575.3(GLIS2):c.101G>A (p.Arg34His) rs377037409 0.00003
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) rs750906253 0.00003
NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp) rs761985295 0.00003
NM_032575.3(GLIS2):c.56C>T (p.Ala19Val) rs560306322 0.00003
NM_032575.3(GLIS2):c.627C>T (p.Cys209=) rs746571582 0.00003
NM_032575.3(GLIS2):c.903C>T (p.His301=) rs371341058 0.00003
NM_032575.3(GLIS2):c.100C>T (p.Arg34Cys) rs369113794 0.00002
NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu) rs144263133 0.00002
NM_032575.3(GLIS2):c.1560G>A (p.Pro520=) rs759274279 0.00002
NM_032575.3(GLIS2):c.1564G>A (p.Val522Met) rs901123781 0.00002
NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu) rs775844299 0.00002
NM_032575.3(GLIS2):c.790G>A (p.Val264Ile) rs372331480 0.00002
NM_032575.3(GLIS2):c.*1583del rs886052000 0.00001
NM_032575.3(GLIS2):c.*516C>T rs982214507 0.00001
NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser) rs746233571 0.00001
NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met) rs373198635 0.00001
NM_032575.3(GLIS2):c.1510T>C (p.Leu504=) rs568866303 0.00001
NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly) rs745941117 0.00001
NM_032575.3(GLIS2):c.18G>A (p.Glu6=) rs759679058 0.00001
NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu) rs771450245 0.00001
NM_032575.3(GLIS2):c.346-4C>G rs990927651 0.00001
NM_032575.3(GLIS2):c.346-9G>A rs565376002 0.00001
NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg) rs747387534 0.00001
NM_032575.3(GLIS2):c.588C>T (p.Pro196=) rs766508781 0.00001
NM_032575.3(GLIS2):c.657-16G>A rs1011610705 0.00001
NM_032575.3(GLIS2):c.747C>T (p.Asn249=) rs763296256 0.00001
NM_032575.3(GLIS2):c.996C>T (p.Arg332=) rs1156423542 0.00001
NC_000016.9:g.(?_4386706)_(4387545_?)dup
NM_032575.3(GLIS2):c.*1046G>C rs886051998
NM_032575.3(GLIS2):c.*125G>A rs531374169
NM_032575.3(GLIS2):c.*1319A>G rs2053591653
NM_032575.3(GLIS2):c.*1628C>G rs886052001
NM_032575.3(GLIS2):c.*1700G>A rs886052002
NM_032575.3(GLIS2):c.*1710C>A rs977793955
NM_032575.3(GLIS2):c.*1911G>C rs1462021751
NM_032575.3(GLIS2):c.*1931C>G rs960392881
NM_032575.3(GLIS2):c.*1998C>G rs2053602695
NM_032575.3(GLIS2):c.*2021C>T rs2053603023
NM_032575.3(GLIS2):c.*204G>A rs2053573148
NM_032575.3(GLIS2):c.*2058G>A rs2053603535
NM_032575.3(GLIS2):c.*291TCC[1] rs377612419
NM_032575.3(GLIS2):c.*611G>A rs886051993
NM_032575.3(GLIS2):c.*849G>C rs757142602
NM_032575.3(GLIS2):c.*887G>C rs886051997
NM_032575.3(GLIS2):c.1000C>A (p.Pro334Thr)
NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg)
NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser) rs1161017853
NM_032575.3(GLIS2):c.1042G>A (p.Val348Ile)
NM_032575.3(GLIS2):c.1061T>C (p.Ile354Thr)
NM_032575.3(GLIS2):c.1078G>A (p.Ala360Thr)
NM_032575.3(GLIS2):c.1094C>T (p.Pro365Leu) rs2053561223
NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr)
NM_032575.3(GLIS2):c.1123G>C (p.Ala375Pro)
NM_032575.3(GLIS2):c.1194_1208dup (p.Gly401_Pro405dup) rs878855164
NM_032575.3(GLIS2):c.1200T>C (p.Pro400=) rs762143375
NM_032575.3(GLIS2):c.1202G>T (p.Gly401Val) rs1433611737
NM_032575.3(GLIS2):c.1203G>C (p.Gly401=) rs2141135025
NM_032575.3(GLIS2):c.1215C>T (p.Pro405=)
NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu) rs781541345
NM_032575.3(GLIS2):c.126G>A (p.Leu42=)
NM_032575.3(GLIS2):c.127G>A (p.Val43Met) rs886051989
NM_032575.3(GLIS2):c.129G>A (p.Val43=)
NM_032575.3(GLIS2):c.1320C>T (p.Gly440=)
NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys)
NM_032575.3(GLIS2):c.1355C>A (p.Pro452His) rs776535774
NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val)
NM_032575.3(GLIS2):c.1393C>T (p.Leu465Phe) rs774316267
NM_032575.3(GLIS2):c.1397A>G (p.Glu466Gly)
NM_032575.3(GLIS2):c.1413C>A (p.Ser471Arg)
NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg) rs201182025
NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met) rs762640275
NM_032575.3(GLIS2):c.1480G>A (p.Val494Ile)
NM_032575.3(GLIS2):c.165G>A (p.Pro55=)
NM_032575.3(GLIS2):c.172+14G>A
NM_032575.3(GLIS2):c.173-16T>C
NM_032575.3(GLIS2):c.173-17C>G
NM_032575.3(GLIS2):c.195C>T (p.Phe65=)
NM_032575.3(GLIS2):c.210G>A (p.Glu70=) rs886051990
NM_032575.3(GLIS2):c.234C>G (p.Leu78=) rs149312212
NM_032575.3(GLIS2):c.255A>G (p.Pro85=)
NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)
NM_032575.3(GLIS2):c.346-18C>T
NM_032575.3(GLIS2):c.362G>A (p.Arg121His)
NM_032575.3(GLIS2):c.484C>T (p.Leu162=)
NM_032575.3(GLIS2):c.512G>A (p.Arg171His)
NM_032575.3(GLIS2):c.51C>G (p.Leu17=)
NM_032575.3(GLIS2):c.522+10G>A rs569937790
NM_032575.3(GLIS2):c.522+11G>A
NM_032575.3(GLIS2):c.523-20A>T
NM_032575.3(GLIS2):c.523-9C>T rs2053535570
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg) rs587777353
NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del) rs2141132961
NM_032575.3(GLIS2):c.579T>C (p.His193=)
NM_032575.3(GLIS2):c.57G>A (p.Ala19=)
NM_032575.3(GLIS2):c.600G>A (p.Ala200=)
NM_032575.3(GLIS2):c.600G>C (p.Ala200=) rs186957679
NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)
NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)
NM_032575.3(GLIS2):c.656+12GA[2]
NM_032575.3(GLIS2):c.657-17C>T
NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys) rs140720783
NM_032575.3(GLIS2):c.714G>A (p.Pro238=)
NM_032575.3(GLIS2):c.765G>A (p.Arg255=) rs2141133274
NM_032575.3(GLIS2):c.768G>A (p.Ser256=)
NM_032575.3(GLIS2):c.775+16C>T
NM_032575.3(GLIS2):c.775+1G>T rs878855335
NM_032575.3(GLIS2):c.776-20T>G
NM_032575.3(GLIS2):c.969C>T (p.His323=)

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