ClinVar Miner

List of variants in gene NBN reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp) rs587782409 0.00001
NM_002485.5(NBN):c.432A>G (p.Thr144=) rs886043003 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys) rs587782130
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly) rs921235584
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.458T>C (p.Val153Ala) rs1554567865

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