ClinVar Miner

List of variants studied for Microcephaly, normal intelligence and immunodeficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51086
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.*1209A>C rs1063054 0.31749
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 0.31047
NM_002485.5(NBN):c.*273G>A rs1063053 0.30534
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.*757A>G rs13312981 0.07109
NM_002485.5(NBN):c.*1961T>C rs13312987 0.06664
NM_002485.5(NBN):c.*1692A>G rs13312986 0.03317
NM_002485.5(NBN):c.*2212G>A rs10464867 0.02921
NM_002485.5(NBN):c.*937T>C rs11987865 0.02803
NM_002485.5(NBN):c.*790T>G rs11987887 0.02799
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01775
NM_002485.5(NBN):c.*2129G>T rs117807915 0.01227
NM_002485.5(NBN):c.*419C>T rs13312979 0.00989
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 0.00775
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.*1222A>C rs13312985 0.00616
NM_002485.5(NBN):c.*987T>G rs78935210 0.00547
NM_002485.5(NBN):c.*401C>G rs104895030 0.00535
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00507
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00431
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00277
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00182
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002485.5(NBN):c.*1823T>C rs556606685 0.00132
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_002485.5(NBN):c.*1583G>A rs139384734 0.00104
NM_002485.5(NBN):c.*2188T>C rs190894937 0.00097
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_002485.5(NBN):c.*504A>G rs3780123 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002485.5(NBN):c.-26G>A rs201392451 0.00042
NM_002485.5(NBN):c.*983G>A rs13312983 0.00037
NM_002485.5(NBN):c.*2206C>T rs547081912 0.00035
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.*1642A>G rs769415813 0.00018
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00018
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00016
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00015
NM_002485.5(NBN):c.*2059A>C rs755199398 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002485.5(NBN):c.*829T>A rs752958453 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_002485.5(NBN):c.*522T>C rs886063164 0.00009
NM_002485.5(NBN):c.*1287A>G rs989124878 0.00008
NM_002485.5(NBN):c.*638G>A rs976356195 0.00006
NM_002485.4(NBN):c.*2252T>A rs1002146586 0.00005
NM_002485.5(NBN):c.*485A>G rs886063165 0.00004
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.*1297T>G rs547479870 0.00003
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00003
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002485.5(NBN):c.*123T>A rs886063167 0.00002
NM_002485.5(NBN):c.*1267A>G rs1356012750 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002485.5(NBN):c.*1220C>G rs1040887182 0.00001
NM_002485.5(NBN):c.*1400C>T rs532490798 0.00001
NM_002485.5(NBN):c.*352C>G rs13312978 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly) rs886063168 0.00001
NM_002485.5(NBN):c.172-3C>T rs587781620 0.00001
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) rs587781547 0.00001
NM_002485.5(NBN):c.567G>A (p.Gln189=) rs1203807404 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.*1562A>G rs1809551804
NM_002485.5(NBN):c.*1869_*1872del rs886063163
NM_002485.5(NBN):c.*226T>C rs886063166
NM_002485.5(NBN):c.*680A>G rs1809594322
NM_002485.5(NBN):c.-46C>A rs751549166
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly) rs780365310
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln) rs993110145
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly) rs1586043675
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2258G>C (p.Arg753Thr) rs773020664

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