ClinVar Miner

List of variants in gene NBN reported as pathogenic for cancer

Included ClinVar conditions (474):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.1071dup (p.Val358fs) rs2129745554
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter) rs772909239
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1523dup (p.Ser509fs) rs1586054199
NM_002485.5(NBN):c.1717G>T (p.Glu573Ter)
NM_002485.5(NBN):c.177_180dup (p.Asp61fs)
NM_002485.5(NBN):c.2168_2172del (p.Leu723fs)
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.5(NBN):c.2235-1G>A
NM_002485.5(NBN):c.250C>T (p.Gln84Ter) rs1586108714
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.702+1G>A rs1057517104
NM_002485.5(NBN):c.835C>T (p.Gln279Ter)
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter) rs748453607

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