ClinVar Miner

List of variants in gene BLNK, ZNF518A studied for Agammaglobulinemia 4, autosomal recessive

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_013314.4(BLNK):c.1096-11A>T rs74151283 0.05315
NM_013314.4(BLNK):c.923T>C (p.Ile308Thr) rs144266674 0.00084
NM_013314.4(BLNK):c.957A>C (p.Pro319=) rs149590334 0.00043
NM_013314.4(BLNK):c.1021G>A (p.Val341Ile) rs144826995 0.00041
NM_013314.4(BLNK):c.1096-16A>T rs80026049 0.00035
NM_013314.4(BLNK):c.1252-4C>T rs372130465 0.00006
NM_013314.4(BLNK):c.932C>T (p.Pro311Leu) rs773027640 0.00004
NM_013314.4(BLNK):c.935-3C>T rs201642415 0.00004
NM_013314.4(BLNK):c.1196G>A (p.Arg399Gln) rs267602649 0.00003
NM_013314.4(BLNK):c.902+9C>G rs782684052 0.00003
NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser) rs782110816 0.00002
NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu) rs782205113 0.00002
NM_013314.4(BLNK):c.1287T>C (p.His429=) rs202240472 0.00002
NM_013314.4(BLNK):c.1316G>A (p.Ser439Asn) rs782445849 0.00002
NM_013314.4(BLNK):c.829C>T (p.Pro277Ser) rs782411291 0.00002
NM_013314.4(BLNK):c.845G>A (p.Arg282Gln) rs782231780 0.00002
NM_013314.4(BLNK):c.934+12G>A rs375361757 0.00002
NM_013314.4(BLNK):c.1041T>C (p.Tyr347=) rs587691913 0.00001
NM_013314.4(BLNK):c.1096-17T>A rs199983704 0.00001
NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr) rs895691306 0.00001
NM_013314.4(BLNK):c.1195C>T (p.Arg399Ter) rs1554894837 0.00001
NM_013314.4(BLNK):c.1252-17A>G rs781881941 0.00001
NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe) rs782636828 0.00001
NM_013314.4(BLNK):c.903-11C>A rs943669594 0.00001
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu) rs1177361907 0.00001
NM_013314.4(BLNK):c.939T>C (p.Phe313=) rs782051821 0.00001
NM_013314.4(BLNK):c.1011+14T>C
NM_013314.4(BLNK):c.1011+19A>C
NM_013314.4(BLNK):c.1012-11C>T
NM_013314.4(BLNK):c.1012-4A>G
NM_013314.4(BLNK):c.1020C>T (p.Gly340=) rs375535673
NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly) rs2133946404
NM_013314.4(BLNK):c.1031del (p.Lys344fs) rs2133946382
NM_013314.4(BLNK):c.1096-17del rs201454460
NM_013314.4(BLNK):c.1096-6A>T
NM_013314.4(BLNK):c.1096-9dup
NM_013314.4(BLNK):c.1110T>C (p.Leu370=) rs2133931930
NM_013314.4(BLNK):c.1112T>C (p.Ile371Thr)
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp) rs782566012
NM_013314.4(BLNK):c.1115G>A (p.Arg372Gln) rs782570122
NM_013314.4(BLNK):c.1121G>A (p.Ser374Asn)
NM_013314.4(BLNK):c.1125T>A (p.Ser375=) rs1591292772
NM_013314.4(BLNK):c.1173G>A (p.Lys391=)
NM_013314.4(BLNK):c.1195C>A (p.Arg399=)
NM_013314.4(BLNK):c.1230C>A (p.Gly410=) rs1591292563
NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala) rs1466156518
NM_013314.4(BLNK):c.1251+13T>C
NM_013314.4(BLNK):c.1252-3T>C
NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe) rs2083340048
NM_013314.4(BLNK):c.1281G>A (p.Arg427=) rs2083339779
NM_013314.4(BLNK):c.1291C>A (p.His431Asn)
NM_013314.4(BLNK):c.1303G>A (p.Val435Ile)
NM_013314.4(BLNK):c.1313A>G (p.Asp438Gly) rs2133908110
NM_013314.4(BLNK):c.1321A>T (p.Asn441Tyr)
NM_013314.4(BLNK):c.1351T>A (p.Tyr451Asn)
NM_013314.4(BLNK):c.1351T>C (p.Tyr451His) rs782547336
NM_013314.4(BLNK):c.1369T>C (p.Ter457Gln)
NM_013314.4(BLNK):c.818-12T>A
NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)
NM_013314.4(BLNK):c.839G>A (p.Arg280His)
NM_013314.4(BLNK):c.858C>T (p.His286=) rs2133965694
NM_013314.4(BLNK):c.869C>T (p.Ala290Val)
NM_013314.4(BLNK):c.873G>T (p.Val291=) rs2083745776
NM_013314.4(BLNK):c.881C>T (p.Pro294Leu)
NM_013314.4(BLNK):c.893C>T (p.Pro298Leu)
NM_013314.4(BLNK):c.896C>T (p.Ala299Val)
NM_013314.4(BLNK):c.902+15C>G
NM_013314.4(BLNK):c.903-10T>C rs2083731898
NM_013314.4(BLNK):c.903-19C>T
NM_013314.4(BLNK):c.903-7C>T
NM_013314.4(BLNK):c.903A>G (p.Lys301=)
NM_013314.4(BLNK):c.926C>A (p.Pro309His) rs1177361907
NM_013314.4(BLNK):c.934+11C>A
NM_013314.4(BLNK):c.934+8C>T
NM_013314.4(BLNK):c.948G>A (p.Gly316=)
NM_013314.4(BLNK):c.970C>T (p.Pro324Ser) rs2083618670
NM_013314.4(BLNK):c.987A>G (p.Ser329=)
NM_013314.4(BLNK):c.999T>C (p.Thr333=)

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