ClinVar Miner

List of variants reported as pathogenic for neoplasm of immature B and T cells

Included ClinVar conditions (13):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter) rs796065342 0.00001
NM_000051.4(ATM):c.5044G>C (p.Asp1682His) rs121434217
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000546.6(TP53):c.-19_*21del (p.Met1fs)
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001987.4(ETV6):c.1153-5_1153-1del
NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) rs786205155
NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) rs869312821
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
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_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr) rs1057519722
NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser) rs1057519723
NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser) rs1057519723
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter) rs2153469119
NM_016734.3(PAX5):c.239C>G (p.Pro80Arg)
NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys) rs796065341
NM_022148.4(CRLF2):c.695T>G (p.Phe232Cys) rs1057519743
NM_024675.4(PALB2):c.1675_1676delinsTG
NM_138761.4(BAX):c.115_121del (p.Gly39fs) rs398122840
NM_138761.4(BAX):c.199G>A (p.Gly67Arg) rs398122513
Single allele

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