ClinVar Miner

List of variants in gene NBN reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_002485.4(NBN):c.1036G>A (p.Val346Met) rs200297914
NM_002485.4(NBN):c.1089C>T (p.Tyr363=) rs121908974
NM_002485.4(NBN):c.120G>T (p.Ser40=) rs774989816
NM_002485.4(NBN):c.1285T>G (p.Tyr429Asp) rs587782409
NM_002485.4(NBN):c.1343A>T (p.Gln448Leu) rs146403088
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1474C>A (p.Gln492Lys) rs587782130
NM_002485.4(NBN):c.1846-11_1846-7delTATTT rs1060504925
NM_002485.4(NBN):c.1922A>G (p.Asp641Gly) rs921235584
NM_002485.4(NBN):c.350_352CTT[1] (p.Ser118del) rs730881841
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.432A>G (p.Thr144=) rs886043003
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.458T>C (p.Val153Ala) rs1554567865
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.596C>G (p.Pro199Arg) rs730881844
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.938C>T (p.Ala313Val) rs730881862

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