List of variants reported as uncertain significance for Agammaglobulinemia 4, autosomal recessive by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 120

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HGVS	dbSNP	gnomAD frequency
NM_013314.4(BLNK):c.88G>C (p.Gly30Arg)	rs143109144	0.00077
NM_013314.4(BLNK):c.178G>A (p.Glu60Lys)	rs148249957	0.00056
NM_013314.4(BLNK):c.1021G>A (p.Val341Ile)	rs144826995	0.00041
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu)	rs191065660	0.00029
NM_013314.4(BLNK):c.652G>A (p.Ala218Thr)	rs375608442	0.00011
NM_013314.4(BLNK):c.34A>T (p.Ser12Cys)	rs201052118	0.00010
NM_013314.4(BLNK):c.45G>C (p.Leu15Phe)	rs138255946	0.00009
NM_013314.4(BLNK):c.273C>A (p.Asn91Lys)	rs200794859	0.00008
NM_013314.4(BLNK):c.320C>T (p.Pro107Leu)	rs375364894	0.00007
NM_013314.4(BLNK):c.25G>A (p.Val9Ile)	rs200630912	0.00006
NM_013314.4(BLNK):c.596C>G (p.Pro199Arg)	rs781980711	0.00006
NM_013314.4(BLNK):c.206A>G (p.Asp69Gly)	rs199765600	0.00005
NM_013314.4(BLNK):c.527C>T (p.Ala176Val)	rs782568875	0.00004
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.275C>A (p.Ala92Asp)	rs201576692	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.1316G>A (p.Ser439Asn)	rs782445849	0.00002
NM_013314.4(BLNK):c.293C>T (p.Pro98Leu)	rs201683834	0.00002
NM_013314.4(BLNK):c.52C>T (p.Leu18Phe)	rs577163183	0.00002
NM_013314.4(BLNK):c.544G>A (p.Val182Met)	rs141021727	0.00002
NM_013314.4(BLNK):c.680G>A (p.Arg227Gln)	rs782554120	0.00002
NM_013314.4(BLNK):c.807T>G (p.Ser269Arg)	rs374762276	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.1106T>A (p.Phe369Tyr)	rs895691306	0.00001
NM_013314.4(BLNK):c.113+4A>T	rs1554907782	0.00001
NM_013314.4(BLNK):c.1302G>T (p.Leu434Phe)	rs782636828	0.00001
NM_013314.4(BLNK):c.157G>A (p.Ala53Thr)	rs782259412	0.00001
NM_013314.4(BLNK):c.196G>A (p.Asp66Asn)	rs1490043216	0.00001
NM_013314.4(BLNK):c.201C>G (p.Asp67Glu)	rs782619779	0.00001
NM_013314.4(BLNK):c.211G>A (p.Asp71Asn)	rs782528456	0.00001
NM_013314.4(BLNK):c.249G>A (p.Met83Ile)	rs782796988	0.00001
NM_013314.4(BLNK):c.254T>C (p.Val85Ala)	rs587702260	0.00001
NM_013314.4(BLNK):c.265G>A (p.Glu89Lys)	rs1006565682	0.00001
NM_013314.4(BLNK):c.274G>A (p.Ala92Thr)	rs782493817	0.00001
NM_013314.4(BLNK):c.328C>G (p.Pro110Ala)	rs1554902771	0.00001
NM_013314.4(BLNK):c.335T>C (p.Leu112Pro)	rs1434331471	0.00001
NM_013314.4(BLNK):c.434A>G (p.Glu145Gly)	rs1554901814	0.00001
NM_013314.4(BLNK):c.49C>A (p.Gln17Lys)	rs782515867	0.00001
NM_013314.4(BLNK):c.509G>A (p.Gly170Asp)	rs1053275132	0.00001
NM_013314.4(BLNK):c.511C>T (p.Leu171Phe)	rs782601154	0.00001
NM_013314.4(BLNK):c.517G>A (p.Glu173Lys)	rs782436993	0.00001
NM_013314.4(BLNK):c.659C>T (p.Pro220Leu)	rs1591316040	0.00001
NM_013314.4(BLNK):c.685A>G (p.Ser229Gly)	rs782305136	0.00001
NM_013314.4(BLNK):c.746G>A (p.Gly249Glu)	rs782290327	0.00001
NM_013314.4(BLNK):c.817+6A>G	rs782459899	0.00001
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu)	rs1177361907	0.00001
NC_000010.10:g.(?_97366499)_(98031175_?)dup
NC_000010.10:g.(?_97951709)_(98031175_?)dup
NC_000010.10:g.(?_98031089)_(98031175_?)dup
NM_013314.4(BLNK):c.1027T>G (p.Cys343Gly)	rs2133946404
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.1244G>C (p.Gly415Ala)	rs1466156518
NM_013314.4(BLNK):c.1252-3T>C
NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe)	rs2083340048
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.171_172inv (p.Ala58Thr)
NM_013314.4(BLNK):c.184G>C (p.Glu62Gln)
NM_013314.4(BLNK):c.191G>C (p.Trp64Ser)	rs1842471945
NM_013314.4(BLNK):c.198T>A (p.Asp66Glu)	rs587721918
NM_013314.4(BLNK):c.203T>C (p.Phe68Ser)
NM_013314.4(BLNK):c.208A>G (p.Ser70Gly)	rs2134032306
NM_013314.4(BLNK):c.210C>G (p.Ser70Arg)	rs138625467
NM_013314.4(BLNK):c.230A>G (p.Glu77Gly)	rs2134032203
NM_013314.4(BLNK):c.248T>C (p.Met83Thr)
NM_013314.4(BLNK):c.253G>A (p.Val85Met)
NM_013314.4(BLNK):c.262G>T (p.Ala88Ser)
NM_013314.4(BLNK):c.284G>A (p.Ser95Asn)	rs1842318615
NM_013314.4(BLNK):c.292C>G (p.Pro98Ala)
NM_013314.4(BLNK):c.302T>C (p.Val101Ala)	rs2134031807
NM_013314.4(BLNK):c.351C>T (p.Gly117=)
NM_013314.4(BLNK):c.368G>T (p.Arg123Leu)	rs781854815
NM_013314.4(BLNK):c.377A>G (p.Gln126Arg)	rs1313837045
NM_013314.4(BLNK):c.395T>G (p.Phe132Cys)	rs2134020915
NM_013314.4(BLNK):c.419C>T (p.Pro140Leu)	rs2134020896
NM_013314.4(BLNK):c.460C>G (p.Pro154Ala)	rs2084259658
NM_013314.4(BLNK):c.463G>T (p.Ala155Ser)	rs201861123
NM_013314.4(BLNK):c.479A>G (p.Gln160Arg)	rs781989662
NM_013314.4(BLNK):c.484C>T (p.Pro162Ser)
NM_013314.4(BLNK):c.521A>T (p.Asp174Val)
NM_013314.4(BLNK):c.571C>A (p.His191Asn)	rs2134002149
NM_013314.4(BLNK):c.596C>T (p.Pro199Leu)	rs781980711
NM_013314.4(BLNK):c.5A>T (p.Asp2Val)
NM_013314.4(BLNK):c.607+5G>C	rs782348426
NM_013314.4(BLNK):c.611C>A (p.Pro204His)	rs2084041054
NM_013314.4(BLNK):c.616G>A (p.Val206Met)	rs1297812434
NM_013314.4(BLNK):c.616_618del (p.Val206del)
NM_013314.4(BLNK):c.646A>G (p.Thr216Ala)	rs1307642715
NM_013314.4(BLNK):c.647C>T (p.Thr216Met)
NM_013314.4(BLNK):c.656C>G (p.Ser219Cys)
NM_013314.4(BLNK):c.677-3C>T	rs2133983445
NM_013314.4(BLNK):c.718G>A (p.Ala240Thr)
NM_013314.4(BLNK):c.71A>G (p.Asp24Gly)	rs1554907802
NM_013314.4(BLNK):c.740G>A (p.Arg247Gln)
NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)
NM_013314.4(BLNK):c.758C>T (p.Thr253Met)
NM_013314.4(BLNK):c.775-3T>C
NM_013314.4(BLNK):c.812G>A (p.Cys271Tyr)	rs782250398
NM_013314.4(BLNK):c.815A>C (p.Glu272Ala)
NM_013314.4(BLNK):c.835G>C (p.Glu279Gln)
NM_013314.4(BLNK):c.839G>A (p.Arg280His)
NM_013314.4(BLNK):c.869C>T (p.Ala290Val)
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.903A>G (p.Lys301=)
NM_013314.4(BLNK):c.926C>A (p.Pro309His)	rs1177361907
NM_013314.4(BLNK):c.970C>T (p.Pro324Ser)	rs2083618670

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