ClinVar Miner

List of variants in gene NBN reported by GeneReviews

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.4(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.681delT (p.Phe227LeufsTer4) rs1057519586
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.4(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.4(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.4(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.4(NBN):c.976C>T (p.Gln326Ter) rs121908973

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