ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.703-29C>T rs104895034 0.01266
NM_002485.5(NBN):c.*401C>G rs104895030 0.00535
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_002485.5(NBN):c.172-448A>G rs104895038 0.00115
NM_002485.5(NBN):c.481-168C>T rs104895037 0.00096
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.702+126A>T rs104895035 0.00003
NM_002485.5(NBN):c.-40C>T rs730881843
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.5(NBN):c.1579G>T (p.Asp527Tyr) rs104895031
NM_002485.5(NBN):c.172-529G>A rs104895039
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.818C>G (p.Thr273Arg) rs1554563912

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