ClinVar Miner

List of variants reported as benign for Microcephaly, normal intelligence and immunodeficiency

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002485.5(NBN):c.2184+123G>A rs7840099 0.32815
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_002485.5(NBN):c.994+233G>A rs6990969 0.32471
NM_002485.5(NBN):c.*1209A>C rs1063054 0.31611
NM_002485.5(NBN):c.*1754T>C rs9995 0.31588
NM_002485.5(NBN):c.*541G>C rs2735383 0.31125
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.*273G>A rs1063053 0.30308
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_002485.5(NBN):c.*1977T>C rs14448 0.19329
NM_002485.5(NBN):c.*1961T>C rs13312987 0.07113
NM_002485.5(NBN):c.*757A>G rs13312981 0.07109
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_002485.5(NBN):c.*937T>C rs11987865 0.03004
NM_002485.5(NBN):c.*790T>G rs11987887 0.03002
NM_002485.5(NBN):c.*1692A>G rs13312986 0.02926
NM_002485.5(NBN):c.*2212G>A rs10464867 0.02921
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_002485.5(NBN):c.*419C>T rs13312979 0.01028
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_002485.5(NBN):c.*1013G>A rs13312984 0.00945
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002485.5(NBN):c.1398-19C>T rs201495716 0.00157
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.481-18A>G rs587781092 0.00004
NM_002485.5(NBN):c.702+16G>C rs2272581 0.00004
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NC_000008.11:g.89984913_89984916del rs36226237
NM_002485.5(NBN):c.1124+91C>A rs1805818
NM_002485.5(NBN):c.1125-7del rs2129722492
NM_002485.5(NBN):c.1125-7dup rs2129722492
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.2071-13del rs2130756405
NM_002485.5(NBN):c.320+16del
NM_002485.5(NBN):c.38-11del rs752004731
NM_002485.5(NBN):c.38-11dup rs752004731
NM_002485.5(NBN):c.38-20del rs757737980
NM_002485.5(NBN):c.38-20dup rs757737980
NM_002485.5(NBN):c.703-20dup rs1811468528
NM_002485.5(NBN):c.703-3dup rs1811467593
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967

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