ClinVar Miner

List of variants studied for Acute lymphoid leukemia

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_002485.5(NBN):c.1398-19C>T rs201495716 0.00157
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_006060.6(IKZF1):c.398T>C (p.Met133Thr) rs764847531 0.00006
NM_002485.5(NBN):c.481-4G>A rs754864893 0.00004
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) rs937630364 0.00001
NM_000077.5(CDKN2A):c.151-6_151delinsC
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)
NM_000077.5(CDKN2A):c.235A>C (p.Thr79Pro) rs1554654113
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del) rs587776834
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004936.4(CDKN2B):c.131A>G (p.Asn44Ser)
NM_006060.6(IKZF1):c.1034G>A (p.Ser345Asn) rs2153518093
NM_006060.6(IKZF1):c.1178G>C (p.Ser393Thr)
NM_006060.6(IKZF1):c.1193C>T (p.Thr398Met)
NM_006060.6(IKZF1):c.1405G>C (p.Val469Leu)
NM_006060.6(IKZF1):c.1531C>T (p.Arg511Ter)
NM_006060.6(IKZF1):c.1535G>T (p.Gly512Val)
NM_006060.6(IKZF1):c.161-8275C>T
NM_006060.6(IKZF1):c.161-8401C>T
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) rs2153469119
NM_006060.6(IKZF1):c.26T>C (p.Met9Thr)
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006060.6(IKZF1):c.983G>T (p.Arg328Leu)
NM_016734.2(PAX5):c.1018_1032del
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)
NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)
NM_016734.3(PAX5):c.134_147del (p.Ala45fs)
NM_016734.3(PAX5):c.197G>A (p.Ser66Asn)
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_016734.3(PAX5):c.263dup (p.Val90fs)
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)
NM_016734.3(PAX5):c.435G>C (p.Gln145His) rs758368747
NM_016734.3(PAX5):c.46+1G>A
NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)
NM_016734.3(PAX5):c.963del (p.Ala322fs) rs780753361
NM_016734.3(PAX5):c.963dup (p.Ala322fs)
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)
NM_182918.4(ERG):c.1087G>A (p.Asp363Asn)
NM_182918.4(ERG):c.1088A>G (p.Asp363Gly)
NM_182918.4(ERG):c.1102G>A (p.Ala368Thr)
NM_182918.4(ERG):c.571_572insGGA (p.His191delinsArgAsn)
NM_182918.4(ERG):c.657G>A (p.Met219Ile)

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