ClinVar Miner

List of variants in gene ITGB3 reported as likely pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys) rs774332906 0.00001
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=) rs74458693 0.00001
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg) rs1397448267 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp) rs777748046 0.00001
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) rs368325996 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) rs958609406 0.00001
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) rs79208797 0.00001
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) rs121918446 0.00001
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000212.3(ITGB3):c.917A>C (p.His306Pro) rs13306476 0.00001
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) rs2065118116
NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys) rs2065118116
NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser) rs2143107081
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly) rs1880497383
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) rs754250394
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser) rs2143112826
NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr)
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp) rs1255017270
NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg) rs2143113460
NM_000212.3(ITGB3):c.1543del (p.Arg515fs) rs2143113675
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr) rs2065130922
NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe)
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)
NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp) rs185135224
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser) rs1395325049
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg) rs2065157102
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs)
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly) rs747534508
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)
NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp) rs2143130130
NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr) rs2143130239
NM_000212.3(ITGB3):c.1913+5G>T rs764779088
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) rs2143133343
NM_000212.3(ITGB3):c.2014+5G>A rs2143133455
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)
NM_000212.3(ITGB3):c.325del (p.Val109fs) rs1567764064
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) rs72547409
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro) rs201806801
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) rs1739770567
NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser)
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) rs767548512
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) rs1302506624
NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu)
NM_000212.3(ITGB3):c.567del (p.Tyr190fs)
NM_000212.3(ITGB3):c.614+1G>T rs2065096678
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) rs1598690937
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) rs1057518838
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter) rs1193381168
NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del)
NM_000212.3(ITGB3):c.940-2A>G rs2065117719
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr) rs2065117726
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala) rs2065117736
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn) rs2143105830

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