List of variants reported as uncertain significance for immunodeficiency, common variable, 1 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: 182

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HGVS	dbSNP	gnomAD frequency
NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys)	rs768061768	0.00044
NM_012092.4(ICOS):c.589G>A (p.Val197Met)	rs111644920	0.00037
NM_003809.3(TNFSF12):c.157C>A (p.Gln53Lys)	rs532271559	0.00026
NM_003809.3(TNFSF12):c.353G>A (p.Gly118Glu)	rs144468031	0.00019
NM_003809.3(TNFSF12):c.443G>A (p.Arg148His)	rs200059075	0.00016
NM_003809.3(TNFSF12):c.623G>A (p.Arg208His)	rs376560567	0.00011
NM_012092.4(ICOS):c.106G>A (p.Gly36Arg)	rs202109644	0.00009
NM_003809.3(TNFSF12):c.109C>T (p.Leu37Phe)	rs756671729	0.00007
NM_012092.4(ICOS):c.401A>C (p.Gln134Pro)	rs367905290	0.00007
NM_003809.3(TNFSF12):c.143C>T (p.Ala48Val)	rs1411564411	0.00006
NM_003809.3(TNFSF12):c.365C>T (p.Ala122Val)	rs145233196	0.00006
NM_003809.3(TNFSF12):c.655C>T (p.Arg219Trp)	rs764236967	0.00006
NM_012092.4(ICOS):c.512C>A (p.Ser171Tyr)	rs780326986	0.00006
NM_003809.3(TNFSF12):c.304C>T (p.Arg102Trp)	rs150816164	0.00004
NM_003809.3(TNFSF12):c.386C>A (p.Thr129Lys)	rs746536507	0.00004
NM_003809.3(TNFSF12):c.662G>C (p.Gly221Ala)	rs764630895	0.00004
NM_003809.3(TNFSF12):c.142G>C (p.Ala48Pro)	rs1368698594	0.00003
NM_003809.3(TNFSF12):c.245C>T (p.Ala82Val)	rs370085069	0.00003
NM_003809.3(TNFSF12):c.295C>T (p.Arg99Trp)	rs748479475	0.00003
NM_003809.3(TNFSF12):c.622C>T (p.Arg208Cys)	rs777759037	0.00003
NM_003809.3(TNFSF12):c.679C>T (p.Arg227Cys)	rs1414804824	0.00003
NM_003809.3(TNFSF12):c.197A>G (p.Gln66Arg)	rs1390303105	0.00002
NM_003809.3(TNFSF12):c.469C>T (p.Arg157Trp)	rs763175605	0.00002
NM_003809.3(TNFSF12):c.674G>A (p.Arg225Gln)	rs576689580	0.00002
NM_003809.3(TNFSF12):c.716T>C (p.Phe239Ser)	rs761947704	0.00002
NM_012092.4(ICOS):c.356T>C (p.Phe119Ser)	rs375299065	0.00002
NM_012092.4(ICOS):c.45T>G (p.Ile15Met)	rs762842725	0.00002
NM_012092.4(ICOS):c.584C>T (p.Thr195Ile)	rs1044762811	0.00002
NM_012092.4(ICOS):c.59-3C>T	rs764098873	0.00002
NM_012092.4(ICOS):c.77C>A (p.Ala26Asp)	rs761695473	0.00002
NM_003809.3(TNFSF12):c.134G>A (p.Gly45Glu)	rs2070971132	0.00001
NM_003809.3(TNFSF12):c.137G>C (p.Ser46Thr)	rs1386396522	0.00001
NM_003809.3(TNFSF12):c.194A>C (p.Asp65Ala)	rs747019973	0.00001
NM_003809.3(TNFSF12):c.26G>A (p.Arg9Gln)	rs1211322156	0.00001
NM_003809.3(TNFSF12):c.284C>A (p.Ala95Glu)	rs1187061850	0.00001
NM_003809.3(TNFSF12):c.296G>A (p.Arg99Gln)	rs770131727	0.00001
NM_003809.3(TNFSF12):c.305G>A (p.Arg102Gln)	rs749853561	0.00001
NM_003809.3(TNFSF12):c.310C>T (p.Arg104Ter)	rs1432703775	0.00001
NM_003809.3(TNFSF12):c.326C>T (p.Ala109Val)	rs1207281513	0.00001
NM_003809.3(TNFSF12):c.337+5G>A	rs1196455086	0.00001
NM_003809.3(TNFSF12):c.374G>A (p.Gly125Asp)	rs765689290	0.00001
NM_003809.3(TNFSF12):c.38G>A (p.Arg13Gln)	rs1432222435	0.00001
NM_003809.3(TNFSF12):c.433C>T (p.Arg145Cys)	rs540997935	0.00001
NM_003809.3(TNFSF12):c.442C>T (p.Arg148Cys)	rs764223156	0.00001
NM_003809.3(TNFSF12):c.554G>A (p.Gly185Asp)	rs149050050	0.00001
NM_003809.3(TNFSF12):c.569G>A (p.Arg190His)	rs1191670290	0.00001
NM_003809.3(TNFSF12):c.596C>T (p.Ala199Val)	rs753366720	0.00001
NM_003809.3(TNFSF12):c.68C>T (p.Pro23Leu)	rs753098151	0.00001
NM_012092.4(ICOS):c.229A>G (p.Ile77Val)	rs1048198057	0.00001
NM_012092.4(ICOS):c.271A>G (p.Ser91Gly)	rs1314279149	0.00001
NM_012092.4(ICOS):c.496A>G (p.Lys166Glu)	rs1297706917	0.00001
NM_012092.4(ICOS):c.523G>A (p.Asp175Asn)	rs778908715	0.00001
NM_012092.4(ICOS):c.580C>A (p.Leu194Ile)	rs547175222	0.00001
NM_012092.4(ICOS):c.586+3A>G	rs377370202	0.00001
NM_012092.4(ICOS):c.71G>T (p.Gly24Val)	rs774325808	0.00001
NC_000002.11:g.(?_201943606)_(204824322_?)dup
NC_000002.11:g.(?_204820339)_(204824322_?)del
NC_000017.10:g.(?_6589506)_(8151374_?)dup
NC_000017.10:g.(?_7123304)_(7606804_?)del
NC_000017.10:g.(?_7452471)_(7454315_?)dup
NM_003809.3(TNFSF12):c.101G>C (p.Cys34Ser)
NM_003809.3(TNFSF12):c.106G>A (p.Gly36Ser)	rs2070970743
NM_003809.3(TNFSF12):c.109del (p.Leu37fs)
NM_003809.3(TNFSF12):c.11G>C (p.Arg4Pro)
NM_003809.3(TNFSF12):c.128G>A (p.Ser43Asn)	rs2150904090
NM_003809.3(TNFSF12):c.130T>G (p.Leu44Val)
NM_003809.3(TNFSF12):c.137G>A (p.Ser46Asn)
NM_003809.3(TNFSF12):c.139C>G (p.Arg47Gly)
NM_003809.3(TNFSF12):c.139C>T (p.Arg47Trp)
NM_003809.3(TNFSF12):c.154G>A (p.Ala52Thr)	rs2070971587
NM_003809.3(TNFSF12):c.159+3G>A
NM_003809.3(TNFSF12):c.159+5G>C	rs200575102
NM_003809.3(TNFSF12):c.164C>T (p.Pro55Leu)	rs764718533
NM_003809.3(TNFSF12):c.175G>A (p.Glu59Lys)
NM_003809.3(TNFSF12):c.177G>C (p.Glu59Asp)	rs868687352
NM_003809.3(TNFSF12):c.185C>T (p.Ala62Val)
NM_003809.3(TNFSF12):c.187G>A (p.Glu63Lys)
NM_003809.3(TNFSF12):c.189GGA[1] (p.Glu64del)	rs2150904255
NM_003809.3(TNFSF12):c.190G>A (p.Glu64Lys)
NM_003809.3(TNFSF12):c.196C>T (p.Gln66Ter)
NM_003809.3(TNFSF12):c.201C>A (p.Asp67Glu)
NM_003809.3(TNFSF12):c.205_207dup (p.Ser69_Glu70insSer)	rs753259588
NM_003809.3(TNFSF12):c.207+3G>C
NM_003809.3(TNFSF12):c.208-3T>C
NM_003809.3(TNFSF12):c.222G>C (p.Gln74His)	rs2070984006
NM_003809.3(TNFSF12):c.23G>A (p.Arg8Lys)	rs958789070
NM_003809.3(TNFSF12):c.242C>T (p.Pro81Leu)
NM_003809.3(TNFSF12):c.247C>A (p.Pro83Thr)
NM_003809.3(TNFSF12):c.259C>T (p.Arg87Ter)
NM_003809.3(TNFSF12):c.260G>A (p.Arg87Gln)
NM_003809.3(TNFSF12):c.260G>T (p.Arg87Leu)
NM_003809.3(TNFSF12):c.266T>C (p.Val89Ala)	rs2070984742
NM_003809.3(TNFSF12):c.269G>A (p.Arg90Gln)	rs745967426
NM_003809.3(TNFSF12):c.274C>G (p.Arg92Gly)
NM_003809.3(TNFSF12):c.274C>T (p.Arg92Cys)	rs758492571
NM_003809.3(TNFSF12):c.275_276delinsAA (p.Arg92Gln)	rs2070984989
NM_003809.3(TNFSF12):c.283G>C (p.Ala95Pro)
NM_003809.3(TNFSF12):c.284-3C>T
NM_003809.3(TNFSF12):c.293G>C (p.Gly98Ala)
NM_003809.3(TNFSF12):c.295C>G (p.Arg99Gly)
NM_003809.3(TNFSF12):c.29G>C (p.Arg10Thr)
NM_003809.3(TNFSF12):c.30G>T (p.Arg10Ser)
NM_003809.3(TNFSF12):c.310C>G (p.Arg104Gly)
NM_003809.3(TNFSF12):c.316G>A (p.Ala106Thr)
NM_003809.3(TNFSF12):c.317C>T (p.Ala106Val)	rs369851985
NM_003809.3(TNFSF12):c.323C>T (p.Ala108Val)
NM_003809.3(TNFSF12):c.347G>A (p.Arg116Gln)	rs771459468
NM_003809.3(TNFSF12):c.350C>A (p.Pro117His)
NM_003809.3(TNFSF12):c.358G>A (p.Asp120Asn)
NM_003809.3(TNFSF12):c.35G>C (p.Arg12Pro)	rs2070968615
NM_003809.3(TNFSF12):c.361G>A (p.Gly121Arg)
NM_003809.3(TNFSF12):c.364G>A (p.Ala122Thr)	rs2070995050
NM_003809.3(TNFSF12):c.36_38del (p.Arg13del)
NM_003809.3(TNFSF12):c.374-3C>G
NM_003809.3(TNFSF12):c.376G>A (p.Val126Met)
NM_003809.3(TNFSF12):c.398G>A (p.Trp133Ter)	rs2150909054
NM_003809.3(TNFSF12):c.400G>A (p.Glu134Lys)
NM_003809.3(TNFSF12):c.412A>C (p.Ile138Leu)
NM_003809.3(TNFSF12):c.41_50del (p.Gly14fs)
NM_003809.3(TNFSF12):c.434G>A (p.Arg145His)	rs1295184449
NM_003809.3(TNFSF12):c.440A>T (p.Asn147Ile)	rs371762842
NM_003809.3(TNFSF12):c.451G>A (p.Gly151Arg)
NM_003809.3(TNFSF12):c.451G>C (p.Gly151Arg)
NM_003809.3(TNFSF12):c.454G>A (p.Glu152Lys)
NM_003809.3(TNFSF12):c.46C>A (p.Pro16Thr)	rs2150904004
NM_003809.3(TNFSF12):c.470G>A (p.Arg157Gln)
NM_003809.3(TNFSF12):c.499G>A (p.Val167Met)
NM_003809.3(TNFSF12):c.503A>C (p.His168Pro)
NM_003809.3(TNFSF12):c.506T>C (p.Phe169Ser)
NM_003809.3(TNFSF12):c.528C>A (p.Tyr176Ter)
NM_003809.3(TNFSF12):c.55G>A (p.Ala19Thr)	rs2070969376
NM_003809.3(TNFSF12):c.563C>T (p.Ala188Val)	rs2071082084
NM_003809.3(TNFSF12):c.569G>C (p.Arg190Pro)	rs1191670290
NM_003809.3(TNFSF12):c.576GGA[1] (p.Glu194del)	rs2150909548
NM_003809.3(TNFSF12):c.596C>A (p.Ala199Glu)
NM_003809.3(TNFSF12):c.59T>C (p.Leu20Pro)
NM_003809.3(TNFSF12):c.607C>T (p.Leu203Phe)
NM_003809.3(TNFSF12):c.610G>A (p.Gly204Arg)	rs746979506
NM_003809.3(TNFSF12):c.610G>C (p.Gly204Arg)
NM_003809.3(TNFSF12):c.629G>T (p.Cys210Phe)
NM_003809.3(TNFSF12):c.633G>C (p.Gln211His)
NM_003809.3(TNFSF12):c.64G>C (p.Val22Leu)	rs1413049593
NM_003809.3(TNFSF12):c.655C>G (p.Arg219Gly)
NM_003809.3(TNFSF12):c.673C>T (p.Arg225Trp)	rs761260715
NM_003809.3(TNFSF12):c.680G>A (p.Arg227His)
NM_003809.3(TNFSF12):c.691T>C (p.Trp231Arg)	rs2071085086
NM_003809.3(TNFSF12):c.707C>T (p.Ala236Val)	rs2071085410
NM_003809.3(TNFSF12):c.713C>G (p.Pro238Arg)
NM_003809.3(TNFSF12):c.718C>T (p.Leu240Phe)
NM_003809.3(TNFSF12):c.730G>A (p.Gly244Arg)
NM_003809.3(TNFSF12):c.739C>A (p.Gln247Lys)
NM_003809.3(TNFSF12):c.80G>T (p.Gly27Val)
NM_003809.3(TNFSF12):c.80GCCTGG[1] (p.27GL[1])
NM_003809.3(TNFSF12):c.80GCCTGG[3] (p.Leu30_Ala31insGlyLeu)
NM_003809.3(TNFSF12):c.88C>G (p.Leu30Val)	rs1230643396
NM_012092.4(ICOS):c.128A>G (p.Lys43Arg)	rs1367837109
NM_012092.4(ICOS):c.13C>T (p.Leu5Phe)	rs1689659275
NM_012092.4(ICOS):c.190G>A (p.Asp64Asn)
NM_012092.4(ICOS):c.215G>T (p.Gly72Val)
NM_012092.4(ICOS):c.235A>C (p.Ser79Arg)	rs2105754222
NM_012092.4(ICOS):c.24C>A (p.Phe8Leu)
NM_012092.4(ICOS):c.376G>A (p.Gly126Arg)	rs2105754334
NM_012092.4(ICOS):c.406T>C (p.Cys136Arg)	rs746054383
NM_012092.4(ICOS):c.416T>G (p.Leu139Arg)
NM_012092.4(ICOS):c.41G>A (p.Arg14His)	rs776057192
NM_012092.4(ICOS):c.43A>G (p.Ile15Val)
NM_012092.4(ICOS):c.451G>A (p.Val151Ile)
NM_012092.4(ICOS):c.466T>G (p.Leu156Val)	rs1690083811
NM_012092.4(ICOS):c.477A>G (p.Ile159Met)
NM_012092.4(ICOS):c.501+6C>G	rs4264550
NM_012092.4(ICOS):c.502-6_502-5insG	rs1690102674
NM_012092.4(ICOS):c.502A>C (p.Lys168Gln)	rs1581607452
NM_012092.4(ICOS):c.509C>T (p.Ser170Leu)	rs2105755520
NM_012092.4(ICOS):c.514A>G (p.Ser172Gly)	rs2105755531
NM_012092.4(ICOS):c.523G>C (p.Asp175His)
NM_012092.4(ICOS):c.547A>G (p.Met183Val)	rs2105755568
NM_012092.4(ICOS):c.562_573del (p.Thr188_Lys191del)	rs2105755576
NM_012092.4(ICOS):c.578G>A (p.Arg193Lys)
NM_012092.4(ICOS):c.58+4A>C	rs2105741117
NM_012092.4(ICOS):c.586+2T>A	rs1559036416
NM_012092.4(ICOS):c.85G>A (p.Glu29Lys)	rs977088960
NM_012092.4(ICOS):c.86A>G (p.Glu29Gly)

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