ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP
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_*1872del 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.*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.-26G>A rs201392451
NM_002485.4(NBN):c.1023C>G (p.Ser341Arg) rs756023239
NM_002485.4(NBN):c.102G>A (p.Leu34=) rs1063045
NM_002485.4(NBN):c.1125-3C>T rs587781326
NM_002485.4(NBN):c.1197T>C (p.Asp399=) rs709816
NM_002485.4(NBN):c.1205_1209del (p.Thr402fs) rs1563532144
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1383G>A (p.Pro461=) rs886063169
NM_002485.4(NBN):c.1444A>G (p.Arg482Gly) rs886063168
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.4(NBN):c.1914+9C>T rs13312938
NM_002485.4(NBN):c.1915-7A>G rs2308962
NM_002485.4(NBN):c.1925A>G (p.Lys642Arg) rs587781547
NM_002485.4(NBN):c.2016A>G (p.Pro672=) rs1061302
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2258G>C (p.Arg753Thr) rs773020664
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794
NM_002485.4(NBN):c.596C>G (p.Pro199Arg) rs730881844

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