ClinVar Miner

List of variants in gene ITGB3 reported as uncertain significance for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) rs36080296 0.00155
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val) rs56173532 0.00097
NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser) rs138729147 0.00065
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000212.3(ITGB3):c.1800G>A (p.Leu600=) rs139884210 0.00038
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn) rs763017753 0.00026
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000212.3(ITGB3):c.62C>T (p.Ala21Val) rs772418775 0.00010
NM_000212.3(ITGB3):c.985A>G (p.Asn329Asp) rs201550717 0.00010
NM_000212.3(ITGB3):c.683G>A (p.Arg228His) rs756689153 0.00009
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00006
NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=) rs373450805 0.00006
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) rs200358667 0.00005
NM_000212.3(ITGB3):c.356G>A (p.Arg119Gln) rs147782061 0.00005
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) rs369443204 0.00003
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His) rs1231109822 0.00001
NM_000212.3(ITGB3):c.1260+11C>T rs752250845 0.00001
NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile) rs750612657 0.00001
NM_000212.3(ITGB3):c.1605C>T (p.His535=) rs757985563 0.00001
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) rs747991001 0.00001
NM_000212.3(ITGB3):c.273G>A (p.Glu91=) rs776079585 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.414G>C (p.Val138=) rs146957831 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg) rs756088530 0.00001
NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val)
NM_000212.3(ITGB3):c.1125+29G>C rs16941829
NM_000212.3(ITGB3):c.1125+3_1125+6del rs76562369
NM_000212.3(ITGB3):c.1309_1311del (p.Glu437del) rs765171372
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1412G>T (p.Ser471Ile)
NM_000212.3(ITGB3):c.1451G>T (p.Gly484Val)
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) rs13306487
NM_000212.3(ITGB3):c.155G>T (p.Cys52Phe)
NM_000212.3(ITGB3):c.1640G>A (p.Cys547Tyr) rs2065131166
NM_000212.3(ITGB3):c.1658_1660del (p.Ser553del)
NM_000212.3(ITGB3):c.166-14C>A rs749373796
NM_000212.3(ITGB3):c.1690G>C (p.Gly564Arg) rs2143114313
NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr) rs2143129695
NM_000212.3(ITGB3):c.1732G>A (p.Asp578Asn) rs141912699
NM_000212.3(ITGB3):c.1757G>T (p.Cys586Phe) rs2143129874
NM_000212.3(ITGB3):c.1818G>T (p.Lys606Asn)
NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr) rs2143130239
NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val)
NM_000212.3(ITGB3):c.191G>A (p.Cys64Tyr) rs74554539
NM_000212.3(ITGB3):c.1955A>T (p.His652Leu)
NM_000212.3(ITGB3):c.1975C>T (p.Arg659Cys)
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) rs151219882
NM_000212.3(ITGB3):c.2027A>C (p.Lys676Thr)
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) rs72547409
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000212.3(ITGB3):c.385C>A (p.Gln129Lys)
NM_000212.3(ITGB3):c.412G>A (p.Val138Met) rs2065095545
NM_000212.3(ITGB3):c.415G>C (p.Asp139His) rs2143092554
NM_000212.3(ITGB3):c.437T>C (p.Leu146Pro) rs2065095643
NM_000212.3(ITGB3):c.445T>C (p.Ser149Pro)
NM_000212.3(ITGB3):c.473A>G (p.Gln158Arg)
NM_000212.3(ITGB3):c.473A>T (p.Gln158Leu)
NM_000212.3(ITGB3):c.487A>C (p.Lys163Gln)
NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg)
NM_000212.3(ITGB3):c.55del (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.598G>A (p.Glu200Lys)
NM_000212.3(ITGB3):c.59T>C (p.Leu20Pro) rs2149057083
NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg)
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) rs79560904
NM_000212.3(ITGB3):c.85A>G (p.Asn29Asp)
NM_000212.3(ITGB3):c.92G>A (p.Cys31Tyr)
NM_000212.3(ITGB3):c.953T>C (p.Leu318Ser) rs1424237752
NM_000212.3(ITGB3):c.961A>C (p.Met321Leu)
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn) rs2143105830
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853

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