ClinVar Miner

List of variants in gene NBN, OSGIN2 studied for DNA repair disease

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NC_000008.11:g.(?_89921080)_(89984561_?)del
NC_000008.11:g.(?_89933336)_(89958854_?)dup
NC_000008.11:g.(?_89935572)_(89937085_?)del
NC_000008.11:g.(?_89935572)_(89984571_?)del
NC_000008.11:g.(?_89935572)_(89984571_?)dup
NC_000008.11:g.(?_89935576)_(89937081_?)del
NC_000008.11:g.(?_89935576)_(89943372_?)dup
NC_000008.11:g.(?_89935576)_(89981529_?)del
NC_000008.11:g.(?_89935576)_(89984567_?)dup
NM_002485.4(NBN):c.*1013G>A rs13312984
NM_002485.4(NBN):c.*1209A>C rs1063054
NM_002485.4(NBN):c.*123T>A rs886063167
NM_002485.4(NBN):c.*1692A>G rs13312986
NM_002485.4(NBN):c.*1754T>C rs9995
NM_002485.4(NBN):c.*1823T>C rs556606685
NM_002485.4(NBN):c.*1869_*1872delTTTT rs886063163
NM_002485.4(NBN):c.*1961T>C rs13312987
NM_002485.4(NBN):c.*1977T>C rs14448
NM_002485.4(NBN):c.*2212G>A rs10464867
NM_002485.4(NBN):c.*226T>C rs886063166
NM_002485.4(NBN):c.*273G>A rs1063053
NM_002485.4(NBN):c.*364_*393del30 rs1554553737
NM_002485.4(NBN):c.*401C>G rs104895030
NM_002485.4(NBN):c.*419C>T rs13312979
NM_002485.4(NBN):c.*485A>G rs886063165
NM_002485.4(NBN):c.*522T>C rs886063164
NM_002485.4(NBN):c.*541G>C rs2735383
NM_002485.4(NBN):c.*757A>G rs13312981
NM_002485.4(NBN):c.*790T>G rs11987887
NM_002485.4(NBN):c.*937T>C rs11987865
NM_002485.4(NBN):c.*983G>A rs13312983
NM_002485.4(NBN):c.*987T>G rs78935210
NM_002485.4(NBN):c.2185-?_*(1_?)del
NM_002485.4(NBN):c.2235-2A>G rs767094704
NM_002485.4(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.2238C>G (p.Tyr746Ter) rs751570713
NM_002485.4(NBN):c.2240A>G (p.Asn747Ser) rs766237464
NM_002485.4(NBN):c.2244T>A (p.Pro748=) rs1554553884
NM_002485.4(NBN):c.2246A>T (p.Tyr749Phe) rs864622446
NM_002485.4(NBN):c.2247T>C (p.Tyr749=) rs762740478
NM_002485.4(NBN):c.2250A>T (p.Leu750Phe) rs1554553868
NM_002485.4(NBN):c.2258G>A (p.Arg753Lys)
NM_002485.4(NBN):c.2258G>C (p.Arg753Thr) rs773020664

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