ClinVar Miner

List of variants reported as uncertain significance for B cell deficiency by Baylor Genetics

Included ClinVar conditions (66):
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Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798 0.00205
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_203447.4(DOCK8):c.378C>G (p.Ile126Met) rs141175202 0.00124
NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys) rs141252560 0.00121
NM_001364905.1(LRBA):c.5754+15T>C rs112952572 0.00118
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237 0.00115
NM_203447.4(DOCK8):c.550G>A (p.Val184Met) rs143461644 0.00105
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_203447.4(DOCK8):c.3841-11C>T rs372829200 0.00089
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys) rs148249957 0.00056
NM_001282933.2(ZNF341):c.910G>A (p.Ala304Thr) rs201763709 0.00034
NM_001783.4(CD79A):c.269C>T (p.Thr90Met) rs137953079 0.00028
NM_013314.4(BLNK):c.205-15C>T rs199854336 0.00027
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr) rs138785170 0.00021
NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val) rs201500267 0.00019
NM_012452.3(TNFRSF13B):c.171G>C (p.Gln57His) rs149084717 0.00018
NM_012452.3(TNFRSF13B):c.592C>T (p.Arg198Cys) rs140781824 0.00016
NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val) rs755658263 0.00011
NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala) rs756904762 0.00010
NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr) rs141395658 0.00010
NM_001282933.2(ZNF341):c.119C>T (p.Ala40Val) rs151120596 0.00008
NM_001364905.1(LRBA):c.2671T>C (p.Tyr891His) rs757344529 0.00007
NM_001006658.3(CR2):c.818-4C>T rs370106455 0.00006
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His) rs150974807 0.00006
NM_012452.3(TNFRSF13B):c.637G>A (p.Ala213Thr) rs140914723 0.00006
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu) rs370123223 0.00006
NM_001006658.3(CR2):c.1021C>T (p.Arg341Cys) rs529311780 0.00005
NM_001364905.1(LRBA):c.5470C>T (p.Arg1824Trp) rs374719524 0.00005
NM_005026.5(PIK3CD):c.1955+15C>T rs186998116 0.00005
NM_203447.4(DOCK8):c.1343G>A (p.Arg448Lys) rs368164879 0.00005
NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg) rs768521188 0.00004
NM_001322934.2(NFKB2):c.2579C>G (p.Ala860Gly) rs371190206 0.00004
NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn) rs866363880 0.00004
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly) rs538370042 0.00004
NM_080911.3(UNG):c.260C>T (p.Ala87Val) rs767034552 0.00004
NM_203447.4(DOCK8):c.2971-5C>T rs373718659 0.00004
NM_203447.4(DOCK8):c.3484C>T (p.Leu1162Phe) rs757455782 0.00004
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) rs145711865 0.00003
NM_021803.4(IL21):c.119G>A (p.Arg40His) rs141748932 0.00003
NM_001006658.3(CR2):c.446-10G>T rs1422635726 0.00002
NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg) rs375175981 0.00002
NM_005026.5(PIK3CD):c.971G>A (p.Arg324His) rs773473376 0.00002
NM_006846.4(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402 0.00002
NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser) rs1395205685 0.00002
NM_203447.4(DOCK8):c.562G>A (p.Val188Met) rs201847818 0.00002
NM_001006658.3(CR2):c.752C>T (p.Pro251Leu) rs769307763 0.00001
NM_001006658.3(CR2):c.830C>T (p.Pro277Leu) rs201791442 0.00001
NM_001364905.1(LRBA):c.3263A>G (p.Glu1088Gly) rs1387505849 0.00001
NM_001364905.1(LRBA):c.4186C>G (p.Gln1396Glu) rs760112656 0.00001
NM_001364905.1(LRBA):c.4618A>C (p.Ile1540Leu) rs550389924 0.00001
NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys) rs199596976 0.00001
NM_001770.6(CD19):c.228G>T (p.Arg76Ser) rs999692059 0.00001
NM_002184.4(IL6ST):c.658+6T>G rs1161277926 0.00001
NM_003998.4(NFKB1):c.671G>A (p.Ser224Asn) rs778125529 0.00001
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly) rs1326725036 0.00001
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu) rs368229591 0.00001
NM_203447.4(DOCK8):c.1306C>T (p.Arg436Trp) rs775192218 0.00001
NM_203447.4(DOCK8):c.53+262G>C rs377068395 0.00001
NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu) rs1658484718
NM_001006658.3(CR2):c.982G>C (p.Asp328His) rs1658214194
NM_001322934.2(NFKB2):c.1297G>C (p.Glu433Gln) rs2061182778
NM_001364905.1(LRBA):c.1937C>G (p.Pro646Arg) rs755987682
NM_001364905.1(LRBA):c.3826-13A>G rs1750538092
NM_001364905.1(LRBA):c.6223C>T (p.Leu2075Phe) rs1772352730
NM_001364905.1(LRBA):c.6994A>G (p.Ile2332Val)
NM_002184.4(IL6ST):c.1824dup (p.Thr609fs)
NM_003998.4(NFKB1):c.2027C>T (p.Ala676Val) rs1727845506
NM_005026.5(PIK3CD):c.1435G>A (p.Ala479Thr) rs1648293206
NM_006060.6(IKZF1):c.715+167C>T rs549144523
NM_012092.4(ICOS):c.129A>T (p.Lys43Asn) rs1690065667
NM_012452.3(TNFRSF13B):c.288C>T (p.His96=) rs778997868
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) rs1840810037
NM_080911.3(UNG):c.490G>A (p.Gly164Arg) rs745760429
NM_080911.3(UNG):c.710C>G (p.Ala237Gly) rs201146665
NM_139276.3(STAT3):c.1365G>T (p.Glu455Asp)
NM_181523.3(PIK3R1):c.1264G>A (p.Val422Met)
NM_182972.3(IRF2BP2):c.344A>G (p.Glu115Gly) rs1672267992
NM_182972.3(IRF2BP2):c.451C>A (p.Pro151Thr) rs868631595
NM_182972.3(IRF2BP2):c.535C>G (p.Arg179Gly) rs1367122613
NM_203447.4(DOCK8):c.4268C>G (p.Ala1423Gly) rs750589703
NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly) rs139990627
NM_203447.4(DOCK8):c.53+23C>T rs778809812
NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln) rs140539006
NM_203447.4(DOCK8):c.860G>T (p.Ser287Ile) rs2050737085

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