ClinVar Miner

List of variants in gene JAK3 reported as pathogenic

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter) rs137852625 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter) rs1198251679 0.00001
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys) rs761583890 0.00001
NM_000215.4(JAK3):c.308G>A (p.Arg103His) rs774202259 0.00001
NM_000215.4(JAK3):c.3208-1G>A rs1160856608 0.00001
JAK3, 151-BP DEL
NC_000019.9:g.(?_17940897)_(17943758_?)del
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) rs1568404443
NM_000215.3(JAK3):c.[1796T>G;2125T>A]
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter) rs2094238720
NM_000215.4(JAK3):c.101del (p.Gly34fs)
NM_000215.4(JAK3):c.1142+1G>C rs1232129873
NM_000215.4(JAK3):c.1142+1G>T
NM_000215.4(JAK3):c.115del (p.Gln39fs) rs755706305
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
NM_000215.4(JAK3):c.1165del (p.Leu389fs)
NM_000215.4(JAK3):c.1178dup (p.Ser394fs) rs2094235007
NM_000215.4(JAK3):c.123_126del (p.Phe43fs)
NM_000215.4(JAK3):c.1254+2T>A rs2147692665
NM_000215.4(JAK3):c.1255-1G>A
NM_000215.4(JAK3):c.1280del (p.Gly427fs)
NM_000215.4(JAK3):c.1284C>A (p.Cys428Ter)
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter) rs137852626
NM_000215.4(JAK3):c.1383dup (p.Leu462fs) rs2147691124
NM_000215.4(JAK3):c.1432dup (p.Arg478fs) rs769633203
NM_000215.4(JAK3):c.1476del (p.His492fs)
NM_000215.4(JAK3):c.1569G>A (p.Trp523Ter)
NM_000215.4(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs) rs1599873591
NM_000215.4(JAK3):c.1688_1696del (p.Lys563_Cys565del) rs1599873586
NM_000215.4(JAK3):c.1701+1G>A
NM_000215.4(JAK3):c.1701+2T>A rs2147687373
NM_000215.4(JAK3):c.172_174del (p.Ala58del) rs137852627
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000215.4(JAK3):c.1786+3G>T
NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter) rs149316157
NM_000215.4(JAK3):c.1869G>A (p.Trp623Ter)
NM_000215.4(JAK3):c.1888C>T (p.Gln630Ter)
NM_000215.4(JAK3):c.1951C>T (p.Arg651Trp)
NM_000215.4(JAK3):c.2028del (p.Ala677fs)
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2263del (p.Leu754_Leu755insTer)
NM_000215.4(JAK3):c.2272C>T (p.Gln758Ter)
NM_000215.4(JAK3):c.2319_2325dup (p.Asp776delinsHisSerTer)
NM_000215.4(JAK3):c.2324G>A (p.Arg775His) rs1251299279
NM_000215.4(JAK3):c.2350G>A (p.Asp784Asn)
NM_000215.4(JAK3):c.235_242dup (p.Trp81fs)
NM_000215.4(JAK3):c.2408G>A (p.Trp803Ter)
NM_000215.4(JAK3):c.2419C>T (p.Gln807Ter)
NM_000215.4(JAK3):c.2477C>G (p.Ser826Ter)
NM_000215.4(JAK3):c.2523_2532del (p.Arg840_Tyr841insTer)
NM_000215.4(JAK3):c.2552del (p.Leu851fs)
NM_000215.4(JAK3):c.2680+89G>A
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.2787T>G (p.Tyr929Ter)
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs) rs1380154594
NM_000215.4(JAK3):c.2979G>A (p.Trp993Ter)
NM_000215.4(JAK3):c.2989G>T (p.Glu997Ter) rs1568400897
NM_000215.4(JAK3):c.299A>G (p.Tyr100Cys) rs137852624
NM_000215.4(JAK3):c.3008TCT[1] (p.Phe1004del)
NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter) rs2147674587
NM_000215.4(JAK3):c.3071_3072delinsAA (p.Cys1024Ter)
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu) rs147181709
NM_000215.4(JAK3):c.523C>T (p.Arg175Ter)
NM_000215.4(JAK3):c.548del (p.Glu183fs)
NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr) rs1467075214
NM_000215.4(JAK3):c.607C>T (p.Gln203Ter)
NM_000215.4(JAK3):c.664_670del (p.Arg222fs)
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000215.4(JAK3):c.722_723insAGGA (p.Asp241fs)
NM_000215.4(JAK3):c.862-2A>G rs1057523762
NM_000215.4(JAK3):c.904_908dup (p.Lys304fs)
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000215.4(JAK3):c.936dup (p.Gly313fs)
NM_000215.4(JAK3):c.958_959del (p.Val320fs)
NM_000215.4(JAK3):c.970_973del (p.Asp324fs)

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