ClinVar Miner

List of variants in gene NBN reported as pathogenic for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.4(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.4(NBN):c.123del (p.Ser42fs) rs587781891
NM_002485.4(NBN):c.127C>T (p.Arg43Ter) rs200287925
NM_002485.4(NBN):c.1397+2T>A rs730881850
NM_002485.4(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.4(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.4(NBN):c.1635_1636del (p.Arg546fs) rs1563526063
NM_002485.4(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.4(NBN):c.325G>T (p.Glu109Ter) rs587780096
NM_002485.4(NBN):c.60del (p.Gly21fs) rs758708229
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.4(NBN):c.702+1G>T rs1057517104
NM_002485.4(NBN):c.804_805GT[2] (p.Val270fs) rs786202490
NM_002485.4(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.4(NBN):c.974del (p.Pro325fs) rs1554562110

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