List of variants reported as likely pathogenic for Acute lymphoid leukemia by Genomic Diagnostics Laboratory, National Institute of Medical Genomics

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_016734.3(PAX5):c.77T>G (p.Val26Gly)	rs926053251	0.00001
NM_000077.5(CDKN2A):c.151-6_151delinsC	rs2489277337
NM_000077.5(CDKN2A):c.174_185delinsGG (p.Val59fs)	rs2489276701
NM_006060.6(IKZF1):c.271A>T (p.Lys91Ter)	rs2538096964
NM_006060.6(IKZF1):c.336_337insGA (p.Pro113fs)	rs2538103428
NM_006060.6(IKZF1):c.436_438delinsGGGCTCCCTAA (p.Gln146fs)	rs2538277509
NM_006060.6(IKZF1):c.450C>A (p.Cys150Ter)	rs772322516
NM_006060.6(IKZF1):c.475A>T (p.Asn159Tyr)	rs2153477560
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)	rs2153477847
NM_016734.3(PAX5):c.1073G>A (p.Trp358Ter)	rs2131591339
NM_016734.3(PAX5):c.1074del (p.Ser357_Trp358insTer)	rs2493186313
NM_016734.3(PAX5):c.134_147del (p.Ala45fs)	rs2494556210
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)	rs2494512979
NM_016734.3(PAX5):c.263dup (p.Val90fs)	rs2494512458
NM_016734.3(PAX5):c.388C>A (p.Pro130Thr)	rs2132470584
NM_016734.3(PAX5):c.401C>G (p.Ser134Cys)	rs2132470416
NM_016734.3(PAX5):c.46+1G>A	rs1841274813
NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)	rs2494412874
NM_016734.3(PAX5):c.613G>T (p.Glu205Ter)	rs1588104877
NM_016734.3(PAX5):c.963del (p.Ala322fs)	rs780753361
NM_016734.3(PAX5):c.963dup (p.Ala322fs)	rs780753361
NM_016734.3(PAX5):c.967G>T (p.Gly323Ter)	rs750194822

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