ClinVar Miner

List of variants in gene EFCAB13-DT, ITGB3 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.*1016T>A rs3809865 0.69848
NM_000212.3(ITGB3):c.2301+9C>T rs3809863 0.46212
NM_000212.3(ITGB3):c.*713A>G rs2317676 0.09380
NM_000212.3(ITGB3):c.*2327G>A rs58365772 0.05104
NM_000212.3(ITGB3):c.*671C>T rs16941864 0.04199
NM_000212.3(ITGB3):c.*1542C>T rs73322321 0.01652
NM_000212.3(ITGB3):c.*919C>T rs73322319 0.01650
NM_000212.3(ITGB3):c.*1479T>C rs115310198 0.01139
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) rs73322311 0.00885
NM_000212.3(ITGB3):c.*2455A>C rs73322322 0.00876
NM_000212.3(ITGB3):c.*1154G>A rs56288308 0.00791
NM_000212.3(ITGB3):c.*517C>T rs192380904 0.00587
NM_000212.3(ITGB3):c.*1985T>C rs148880380 0.00583
NM_000212.3(ITGB3):c.*1959C>T rs192215916 0.00384
NM_000212.3(ITGB3):c.*1714T>C rs187420016 0.00235
NM_000212.3(ITGB3):c.*2117G>T rs534143307 0.00198
NM_000212.3(ITGB3):c.*271C>G rs189009415 0.00078
NM_000212.3(ITGB3):c.*480T>C rs553453000 0.00036
NM_000212.3(ITGB3):c.*1960G>A rs762687226 0.00029
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.*460A>G rs539834727 0.00017
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) rs121918450 0.00016
NM_000212.3(ITGB3):c.*2081T>G rs577778439 0.00015
NM_000212.3(ITGB3):c.*1292G>T rs779099404 0.00011
NM_000212.3(ITGB3):c.*1505G>T rs760779885 0.00007
NM_000212.3(ITGB3):c.*1817T>A rs776553854 0.00006
NM_000212.3(ITGB3):c.*2030C>A rs886053098 0.00006
NM_000212.3(ITGB3):c.*699C>T rs886053093 0.00006
NM_000212.3(ITGB3):c.*1527A>G rs561828022 0.00005
NM_000212.3(ITGB3):c.*126G>C rs886053089 0.00004
NM_000212.3(ITGB3):c.*12C>T rs763559573 0.00004
NM_000212.3(ITGB3):c.*1331A>G rs142312068 0.00004
NM_000212.3(ITGB3):c.*89G>A rs1252473304 0.00004
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000212.3(ITGB3):c.*1932C>G rs886053097 0.00003
NM_000212.3(ITGB3):c.*758C>G rs886053094 0.00003
NM_000212.3(ITGB3):c.*439C>G rs886053090 0.00002
NM_000212.3(ITGB3):c.*739C>T rs756487158 0.00002
NM_000212.3(ITGB3):c.*1585A>C rs917780047 0.00001
NM_000212.3(ITGB3):c.*2263T>C rs1291399916 0.00001
NM_000212.3(ITGB3):c.2209G>A (p.Ala737Thr) rs754764865 0.00001
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser) rs766423016 0.00001
NM_000212.3(ITGB3):c.2315T>C (p.Leu772Pro) rs1228960294 0.00001
NM_000212.3(ITGB3):c.2356C>T (p.Arg786Trp) rs1377491769 0.00001
NC_000017.11:g.47296304_47307500del
NM_000212.3(ITGB3):c.*1041T>C rs2065213700
NM_000212.3(ITGB3):c.*1226ATTTT[2] rs886053095
NM_000212.3(ITGB3):c.*1349G>C rs2065214730
NM_000212.3(ITGB3):c.*1804A>G rs886053096
NM_000212.3(ITGB3):c.*185T>G rs2065209331
NM_000212.3(ITGB3):c.*2404T>C rs2065219928
NM_000212.3(ITGB3):c.*553_*555del rs886053091
NM_000212.3(ITGB3):c.*639G>A rs17225109
NM_000212.3(ITGB3):c.*674G>T rs886053092
NM_000212.3(ITGB3):c.*805AAG[1] rs373163926
NM_000212.3(ITGB3):c.*90G>C rs2065208698
NM_000212.3(ITGB3):c.2015-644_2134+2135del
NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val) rs1205019601
NM_000212.3(ITGB3):c.2187_2203delinsTCATTGGCTCA (p.Ile730_Leu735delinsHisTrpLeuIle)
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs) rs2143150604
NM_000212.3(ITGB3):c.2217del (p.Ile740fs) rs2143150614
NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)
NM_000212.3(ITGB3):c.2224A>G (p.Lys742Glu) rs1598702813
NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del) rs1598702827
NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro) rs398122374
NM_000212.3(ITGB3):c.2236A>C (p.Thr746Pro) rs2143150698
NM_000212.3(ITGB3):c.2243A>C (p.His748Pro) rs2143150717
NM_000212.3(ITGB3):c.2245G>C (p.Asp749His) rs398122372
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)
NM_000212.3(ITGB3):c.2278C>T (p.Arg760Cys) rs1431211616
NM_000212.3(ITGB3):c.2279G>A (p.Arg760His)
NM_000212.3(ITGB3):c.2301+1G>C
NM_000212.3(ITGB3):c.2302-1G>A rs2143158065
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro) rs121918447

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