ClinVar Miner

List of variants in gene IRF2BPL studied for Inborn genetic diseases

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_024496.4(IRF2BPL):c.721A>C (p.Asn241His) rs199502327 0.00366
NM_024496.4(IRF2BPL):c.724C>T (p.Pro242Ser) rs200743000 0.00079
NM_024496.4(IRF2BPL):c.947C>T (p.Thr316Ile) rs140746135 0.00035
NM_024496.4(IRF2BPL):c.532G>A (p.Val178Met) rs150827485 0.00023
NM_024496.4(IRF2BPL):c.1619G>A (p.Ser540Asn) rs777514510 0.00013
NM_024496.4(IRF2BPL):c.505A>G (p.Ser169Gly) rs370624181 0.00013
NM_024496.4(IRF2BPL):c.967G>A (p.Val323Met) rs201058636 0.00013
NM_024496.4(IRF2BPL):c.677C>T (p.Ala226Val) rs550502053 0.00012
NM_024496.4(IRF2BPL):c.2299G>C (p.Val767Leu) rs142468978 0.00011
NM_024496.4(IRF2BPL):c.800G>T (p.Ser267Ile) rs367674240 0.00011
NM_024496.4(IRF2BPL):c.650A>G (p.Asn217Ser) rs765748046 0.00008
NM_024496.4(IRF2BPL):c.887C>T (p.Pro296Leu) rs751627340 0.00007
NM_024496.4(IRF2BPL):c.926C>T (p.Ser309Leu) rs1015600564 0.00006
NM_024496.4(IRF2BPL):c.938C>T (p.Ser313Leu) rs375067173 0.00006
NM_024496.4(IRF2BPL):c.1946C>T (p.Thr649Ile) rs201369439 0.00004
NM_024496.4(IRF2BPL):c.1286A>G (p.Asn429Ser) rs758091899 0.00003
NM_024496.4(IRF2BPL):c.1607G>T (p.Gly536Val) rs745856019 0.00003
NM_024496.4(IRF2BPL):c.823C>T (p.Pro275Ser) rs780946232 0.00003
NM_024496.4(IRF2BPL):c.890C>T (p.Ala297Val) rs376126541 0.00003
NM_024496.4(IRF2BPL):c.1834C>T (p.Pro612Ser) rs771393712 0.00002
NM_024496.4(IRF2BPL):c.1064C>T (p.Ala355Val) rs1236888532 0.00001
NM_024496.4(IRF2BPL):c.1561C>T (p.Pro521Ser) rs764304719 0.00001
NM_024496.4(IRF2BPL):c.1618A>G (p.Ser540Gly) rs1461784175 0.00001
NM_024496.4(IRF2BPL):c.1677G>C (p.Lys559Asn) rs1472006916 0.00001
NM_024496.4(IRF2BPL):c.1991C>T (p.Ala664Val) rs1465253843 0.00001
NM_024496.4(IRF2BPL):c.2116C>T (p.Pro706Ser) rs781495809 0.00001
NM_024496.4(IRF2BPL):c.2288A>G (p.Lys763Arg) rs2503074159 0.00001
NM_024496.4(IRF2BPL):c.469G>A (p.Ala157Thr) rs756179471 0.00001
NM_024496.4(IRF2BPL):c.476C>T (p.Ala159Val) rs767791510 0.00001
NM_024496.4(IRF2BPL):c.631C>G (p.Leu211Val) rs1480750400 0.00001
NM_024496.4(IRF2BPL):c.683G>C (p.Arg228Pro) rs1398386187 0.00001
NM_024496.4(IRF2BPL):c.1017C>G (p.Asp339Glu) rs928929617
NM_024496.4(IRF2BPL):c.1037A>T (p.Glu346Val) rs2503076648
NM_024496.4(IRF2BPL):c.1040dup (p.Gln348fs) rs2503076637
NM_024496.4(IRF2BPL):c.1190C>G (p.Ser397Trp)
NM_024496.4(IRF2BPL):c.1301C>T (p.Ala434Val) rs1049541752
NM_024496.4(IRF2BPL):c.1323G>A (p.Met441Ile)
NM_024496.4(IRF2BPL):c.1381G>A (p.Glu461Lys) rs2503075770
NM_024496.4(IRF2BPL):c.1412G>A (p.Trp471Ter) rs2503075725
NM_024496.4(IRF2BPL):c.1424G>A (p.Gly475Glu) rs2503075709
NM_024496.4(IRF2BPL):c.1455C>A (p.Phe485Leu) rs1180009332
NM_024496.4(IRF2BPL):c.1486C>T (p.Pro496Ser) rs867708241
NM_024496.4(IRF2BPL):c.1498C>G (p.Leu500Val) rs1447484051
NM_024496.4(IRF2BPL):c.1595C>T (p.Pro532Leu)
NM_024496.4(IRF2BPL):c.1610C>G (p.Ala537Gly)
NM_024496.4(IRF2BPL):c.1786C>T (p.Pro596Ser)
NM_024496.4(IRF2BPL):c.1849C>T (p.Pro617Ser)
NM_024496.4(IRF2BPL):c.1907C>T (p.Thr636Ile) rs2503074756
NM_024496.4(IRF2BPL):c.1936G>A (p.Val646Met)
NM_024496.4(IRF2BPL):c.1968C>G (p.Asn656Lys)
NM_024496.4(IRF2BPL):c.1996G>A (p.Val666Met) rs757908364
NM_024496.4(IRF2BPL):c.2052delinsAA (p.Pro685fs)
NM_024496.4(IRF2BPL):c.2053C>T (p.Pro685Ser)
NM_024496.4(IRF2BPL):c.2112T>G (p.Asp704Glu) rs1885091630
NM_024496.4(IRF2BPL):c.2116_2117delinsT (p.Pro706fs) rs2503074426
NM_024496.4(IRF2BPL):c.2117C>T (p.Pro706Leu) rs1885091306
NM_024496.4(IRF2BPL):c.2152del (p.Cys718fs) rs1555377234
NM_024496.4(IRF2BPL):c.2250G>C (p.Gln750His)
NM_024496.4(IRF2BPL):c.2354C>T (p.Ala785Val) rs1432066824
NM_024496.4(IRF2BPL):c.342_353del (p.Gln124_Gln127del) rs1240326919
NM_024496.4(IRF2BPL):c.342_368del (p.Gln119_Gln127del) rs763965822
NM_024496.4(IRF2BPL):c.391G>A (p.Val131Ile) rs1269651392
NM_024496.4(IRF2BPL):c.425C>T (p.Ala142Val)
NM_024496.4(IRF2BPL):c.457G>A (p.Ala153Thr)
NM_024496.4(IRF2BPL):c.460G>C (p.Ala154Pro) rs1420127066
NM_024496.4(IRF2BPL):c.462CGC[12] (p.Ala164_Val165insAlaAlaAla) rs371633333
NM_024496.4(IRF2BPL):c.472G>A (p.Ala158Thr) rs2503078200
NM_024496.4(IRF2BPL):c.485C>G (p.Ala162Gly)
NM_024496.4(IRF2BPL):c.491_492insCGCCGC (p.Ala164_Val165insAlaAla) rs780441372
NM_024496.4(IRF2BPL):c.509G>C (p.Arg170Pro) rs1817356691
NM_024496.4(IRF2BPL):c.557C>T (p.Thr186Ile)
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024496.4(IRF2BPL):c.586C>T (p.Pro196Ser)
NM_024496.4(IRF2BPL):c.599C>G (p.Pro200Arg)
NM_024496.4(IRF2BPL):c.625C>T (p.Pro209Ser)
NM_024496.4(IRF2BPL):c.647C>T (p.Pro216Leu) rs1594797693
NM_024496.4(IRF2BPL):c.653C>T (p.Ser218Phe) rs148905018
NM_024496.4(IRF2BPL):c.656C>A (p.Ser219Tyr) rs771575150
NM_024496.4(IRF2BPL):c.689G>A (p.Gly230Glu) rs1885154910
NM_024496.4(IRF2BPL):c.757C>T (p.Pro253Ser)
NM_024496.4(IRF2BPL):c.766C>G (p.Leu256Val) rs763769095
NM_024496.4(IRF2BPL):c.769C>G (p.Leu257Val) rs766896279
NM_024496.4(IRF2BPL):c.843C>A (p.Ser281Arg)
NM_024496.4(IRF2BPL):c.845G>A (p.Arg282His)
NM_024496.4(IRF2BPL):c.922A>G (p.Thr308Ala)
NM_024496.4(IRF2BPL):c.968T>G (p.Val323Gly)
NM_024496.4(IRF2BPL):c.974T>C (p.Val325Ala)

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