ClinVar Miner

List of variants in gene IMPG2 reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_016247.4(IMPG2):c.*426G>A rs151199078 0.00866
NM_016247.4(IMPG2):c.*2682T>C rs141519900 0.00761
NM_016247.4(IMPG2):c.*1542A>T rs539098 0.00615
NM_016247.4(IMPG2):c.*2658G>T rs78391139 0.00550
NM_016247.4(IMPG2):c.*685A>G rs537248333 0.00293
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu) rs116450347 0.00272
NM_016247.4(IMPG2):c.*388A>G rs114271586 0.00226
NM_016247.4(IMPG2):c.*180T>G rs193277987 0.00195
NM_016247.4(IMPG2):c.*471A>T rs191621154 0.00177
NM_016247.4(IMPG2):c.1893G>A (p.Pro631=) rs149291477 0.00168
NM_016247.4(IMPG2):c.*2592T>C rs555283960 0.00153
NM_016247.4(IMPG2):c.*2242G>A rs531023160 0.00128
NM_016247.4(IMPG2):c.*3514C>T rs187040403 0.00116
NM_016247.4(IMPG2):c.335-13C>T rs201277460 0.00098
NM_016247.4(IMPG2):c.*810C>T rs536881753 0.00096
NM_016247.4(IMPG2):c.*3949C>T rs190218454 0.00083
NM_016247.4(IMPG2):c.*3774G>A rs773704860 0.00078
NM_016247.4(IMPG2):c.1169G>A (p.Arg390His) rs139255481 0.00072
NM_016247.4(IMPG2):c.392G>A (p.Arg131His) rs147901568 0.00068
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val) rs142710242 0.00063
NM_016247.4(IMPG2):c.-131G>A rs537403217 0.00062
NM_016247.4(IMPG2):c.*3974A>G rs528342516 0.00050
NM_016247.4(IMPG2):c.*2622A>G rs768294566 0.00049
NM_016247.4(IMPG2):c.*3825G>A rs181867679 0.00045
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr) rs143635399 0.00041
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_016247.4(IMPG2):c.*565A>T rs995361821 0.00031
NM_016247.4(IMPG2):c.*371G>A rs191595733 0.00029
NM_016247.4(IMPG2):c.2933C>T (p.Ala978Val) rs371611480 0.00025
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=) rs139496326 0.00025
NM_016247.4(IMPG2):c.*4374A>G rs576192752 0.00024
NM_016247.4(IMPG2):c.*1162T>C rs560772211 0.00019
NM_016247.4(IMPG2):c.*3467G>A rs1039410358 0.00019
NM_016247.4(IMPG2):c.*3740C>T rs532966833 0.00018
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) rs201905772 0.00017
NM_016247.4(IMPG2):c.*3152T>C rs921907957 0.00016
NM_016247.4(IMPG2):c.2803-14T>G rs376452358 0.00015
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_016247.4(IMPG2):c.*3235C>A rs886057669 0.00013
NM_016247.4(IMPG2):c.57G>C (p.Leu19=) rs188916371 0.00013
NM_016247.4(IMPG2):c.*2781C>T rs148335318 0.00012
NM_016247.4(IMPG2):c.*134C>T rs376291735 0.00011
NM_016247.4(IMPG2):c.-44A>G rs781694232 0.00011
NM_016247.4(IMPG2):c.*1578C>T rs886057674 0.00010
NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp) rs138834349 0.00010
NM_016247.4(IMPG2):c.*2653T>C rs112670504 0.00009
NM_016247.4(IMPG2):c.*300T>G rs111515750 0.00009
NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp) rs770293441 0.00009
NM_016247.4(IMPG2):c.1728C>G (p.Val576=) rs556074974 0.00008
NM_016247.4(IMPG2):c.3503C>G (p.Ala1168Gly) rs201519517 0.00008
NM_016247.4(IMPG2):c.2700G>A (p.Val900=) rs200353662 0.00007
NM_016247.4(IMPG2):c.*2909C>T rs138314103 0.00006
NM_016247.4(IMPG2):c.2093C>T (p.Ala698Val) rs767082811 0.00006
NM_016247.4(IMPG2):c.2154C>A (p.Thr718=) rs755250590 0.00006
NM_016247.4(IMPG2):c.3298G>A (p.Val1100Met) rs201105142 0.00006
NM_016247.4(IMPG2):c.391C>T (p.Arg131Cys) rs150344327 0.00006
NM_016247.4(IMPG2):c.972C>T (p.Asp324=) rs762052051 0.00006
NM_016247.4(IMPG2):c.*212G>T rs981935479 0.00005
NM_016247.4(IMPG2):c.*3287C>G rs753790568 0.00005
NM_016247.4(IMPG2):c.*372A>C rs764107922 0.00005
NM_016247.4(IMPG2):c.165C>T (p.Asp55=) rs145388804 0.00005
NM_016247.4(IMPG2):c.*1598C>T rs886057673 0.00004
NM_016247.4(IMPG2):c.*2042G>C rs1484104523 0.00004
NM_016247.4(IMPG2):c.*2385T>A rs748729628 0.00004
NM_016247.4(IMPG2):c.*2966C>T rs950996646 0.00004
NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu) rs193120038 0.00004
NM_016247.4(IMPG2):c.2989G>A (p.Ala997Thr) rs149304893 0.00004
NM_016247.4(IMPG2):c.3288G>A (p.Val1096=) rs190315698 0.00004
NM_016247.4(IMPG2):c.3484G>A (p.Val1162Met) rs775111361 0.00004
NM_016247.4(IMPG2):c.*3007G>A rs553006996 0.00003
NM_016247.4(IMPG2):c.*345C>T rs886057684 0.00003
NM_016247.4(IMPG2):c.*3619C>T rs886057667 0.00003
NM_016247.4(IMPG2):c.1173C>A (p.His391Gln) rs772639885 0.00003
NM_016247.4(IMPG2):c.1553A>G (p.Asn518Ser) rs200892260 0.00003
NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly) rs752321097 0.00003
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) rs139105788 0.00003
NM_016247.4(IMPG2):c.*1600C>T rs570822374 0.00002
NM_016247.4(IMPG2):c.*3773C>T rs763292855 0.00002
NM_016247.4(IMPG2):c.3386C>G (p.Ala1129Gly) rs781172642 0.00002
NM_016247.4(IMPG2):c.3567C>T (p.Asp1189=) rs764568010 0.00002
NM_016247.4(IMPG2):c.361T>C (p.Phe121Leu) rs752379965 0.00002
NM_016247.4(IMPG2):c.*1599G>A rs534752065 0.00001
NM_016247.4(IMPG2):c.*1735C>T rs1706207587 0.00001
NM_016247.4(IMPG2):c.*2329T>C rs1207513458 0.00001
NM_016247.4(IMPG2):c.*3824C>T rs561273259 0.00001
NM_016247.4(IMPG2):c.*868C>T rs1201916028 0.00001
NM_016247.4(IMPG2):c.1000G>A (p.Glu334Lys) rs1189940540 0.00001
NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser) rs199986912 0.00001
NM_016247.4(IMPG2):c.1298C>T (p.Pro433Leu) rs1243396074 0.00001
NM_016247.4(IMPG2):c.1312A>G (p.Ser438Gly) rs1411222579 0.00001
NM_016247.4(IMPG2):c.1543+5G>C rs375172482 0.00001
NM_016247.4(IMPG2):c.1926T>A (p.Ala642=) rs199724338 0.00001
NM_016247.4(IMPG2):c.2071G>A (p.Ala691Thr) rs147163766 0.00001
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala) rs76048775 0.00001
NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr) rs774965996 0.00001
NM_016247.4(IMPG2):c.2761T>C (p.Ser921Pro) rs1232182280 0.00001
NM_016247.4(IMPG2):c.2800T>C (p.Leu934=) rs764443272 0.00001
NM_016247.4(IMPG2):c.2802+8T>C rs886057687 0.00001
NM_016247.4(IMPG2):c.2847A>G (p.Leu949=) rs371471872 0.00001
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys) rs781743972 0.00001
NM_016247.4(IMPG2):c.3233G>A (p.Arg1078Lys) rs1450764771 0.00001
NM_016247.4(IMPG2):c.3355A>G (p.Ile1119Val) rs886057686 0.00001
NM_016247.4(IMPG2):c.3703G>C (p.Glu1235Gln) rs750183083 0.00001
NM_016247.4(IMPG2):c.501+5G>A rs1404077542 0.00001
NM_016247.4(IMPG2):c.887+10C>T rs767130055 0.00001
NM_016247.4(IMPG2):c.*1447C>T rs886057675
NM_016247.4(IMPG2):c.*1551G>A rs74871601
NM_016247.4(IMPG2):c.*1554C>T rs73156011
NM_016247.4(IMPG2):c.*1719A>G rs1706207757
NM_016247.4(IMPG2):c.*2174C>T rs973772805
NM_016247.4(IMPG2):c.*2332T>C rs144532789
NM_016247.4(IMPG2):c.*2435T>C rs772636319
NM_016247.4(IMPG2):c.*2612T>A rs886057671
NM_016247.4(IMPG2):c.*2790G>T rs886057670
NM_016247.4(IMPG2):c.*2838G>C rs1304041280
NM_016247.4(IMPG2):c.*3103G>T rs566200595
NM_016247.4(IMPG2):c.*3599A>G rs886057668
NM_016247.4(IMPG2):c.*3619C>A rs886057667
NM_016247.4(IMPG2):c.*3624T>G rs1706185575
NM_016247.4(IMPG2):c.*3658C>T rs1706185172
NM_016247.4(IMPG2):c.*368G>A rs568108242
NM_016247.4(IMPG2):c.*4108G>C rs886057664
NM_016247.4(IMPG2):c.*4143A>G rs938158679
NM_016247.4(IMPG2):c.*563G>T rs1576740618
NM_016247.4(IMPG2):c.*569G>C rs1381026736
NM_016247.4(IMPG2):c.*874T>C rs1706218494
NM_016247.4(IMPG2):c.*898T>G rs1706218125
NM_016247.4(IMPG2):c.*944A>G rs1706217782
NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys) rs786205565
NM_016247.4(IMPG2):c.1057A>G (p.Asn353Asp)
NM_016247.4(IMPG2):c.1167G>C (p.Leu389Phe)
NM_016247.4(IMPG2):c.1187T>C (p.Leu396Pro) rs773850021
NM_016247.4(IMPG2):c.1319G>A (p.Gly440Asp) rs886057688
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.1579T>G (p.Ser527Ala) rs1706457755
NM_016247.4(IMPG2):c.1595C>T (p.Pro532Leu) rs752926321
NM_016247.4(IMPG2):c.1637C>T (p.Pro546Leu)
NM_016247.4(IMPG2):c.1763A>C (p.Asp588Ala) rs746692897
NM_016247.4(IMPG2):c.176C>G (p.Ala59Gly)
NM_016247.4(IMPG2):c.2028T>G (p.Phe676Leu) rs780140167
NM_016247.4(IMPG2):c.2352G>T (p.Trp784Cys) rs1706441346
NM_016247.4(IMPG2):c.24G>C (p.Gly8=) rs2058805376
NM_016247.4(IMPG2):c.2517G>A (p.Ser839=)
NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met) rs149896250
NM_016247.4(IMPG2):c.2629A>C (p.Met877Leu) rs1271049751
NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys)
NM_016247.4(IMPG2):c.284A>T (p.Glu95Val)
NM_016247.4(IMPG2):c.2873G>A (p.Ser958Asn) rs1706425366
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly) rs941586075
NM_016247.4(IMPG2):c.2894T>A (p.Met965Lys)
NM_016247.4(IMPG2):c.3011A>G (p.Asp1004Gly)
NM_016247.4(IMPG2):c.3041G>T (p.Cys1014Phe) rs1706306915
NM_016247.4(IMPG2):c.3070G>C (p.Glu1024Gln)
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe) rs1706305751
NM_016247.4(IMPG2):c.3126C>T (p.Tyr1042=) rs1229588861
NM_016247.4(IMPG2):c.3172C>T (p.Pro1058Ser) rs1176943043
NM_016247.4(IMPG2):c.3233+8_3233+45del rs757900087
NM_016247.4(IMPG2):c.332G>C (p.Arg111Pro)
NM_016247.4(IMPG2):c.3400A>G (p.Ser1134Gly) rs765312212
NM_016247.4(IMPG2):c.34C>G (p.Leu12Val) rs886057689
NM_016247.4(IMPG2):c.3555T>C (p.Ser1185=)
NM_016247.4(IMPG2):c.3633+1G>A rs886057685
NM_016247.4(IMPG2):c.452T>A (p.Met151Lys)
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala) rs1463411745
NM_016247.4(IMPG2):c.819T>G (p.Phe273Leu) rs1706810225
NM_016247.4(IMPG2):c.86-8C>G
NM_016247.4(IMPG2):c.871C>G (p.Arg291Gly)
NM_016247.4(IMPG2):c.874G>A (p.Val292Ile) rs1706755411
NM_016247.4(IMPG2):c.937T>C (p.Phe313Leu) rs1186127121
NM_016247.4(IMPG2):c.989C>G (p.Ser330Cys) rs1706626237

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