ClinVar Miner

List of variants reported as likely benign for immunodeficiency, common variable, 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_003809.3(TNFSF12):c.357G>A (p.Gln119=) rs147826685 0.00113
NM_012092.4(ICOS):c.438A>T (p.Gly146=) rs139449630 0.00014
NM_012092.4(ICOS):c.567C>G (p.Ala189=) rs373368532 0.00014
NM_012092.4(ICOS):c.531C>T (p.Asn177=) rs370645286 0.00011
NM_012092.4(ICOS):c.597A>G (p.Leu199=) rs145698501 0.00011
NM_003809.3(TNFSF12):c.450C>T (p.Ile150=) rs147597489 0.00009
NM_003809.3(TNFSF12):c.690C>G (p.Pro230=) rs1237382978 0.00009
NM_012092.4(ICOS):c.93T>C (p.Phe31=) rs147754976 0.00009
NM_003809.3(TNFSF12):c.729C>T (p.Phe243=) rs200770110 0.00007
NM_003809.3(TNFSF12):c.374-9C>T rs367612596 0.00006
NM_003809.3(TNFSF12):c.373+18G>A rs370242260 0.00005
NM_003809.3(TNFSF12):c.374-8G>A rs551460083 0.00004
NM_003809.3(TNFSF12):c.42G>A (p.Gly14=) rs1170763703 0.00004
NM_003809.3(TNFSF12):c.159+15C>T rs1274339400 0.00003
NM_012092.4(ICOS):c.42C>A (p.Arg14=) rs765158675 0.00003
NM_012092.4(ICOS):c.510A>G (p.Ser170=) rs148435889 0.00003
NM_003809.3(TNFSF12):c.141G>T (p.Arg47=) rs1167726401 0.00002
NM_003809.3(TNFSF12):c.159+11G>T rs1051286778 0.00002
NM_003809.3(TNFSF12):c.321C>T (p.Ile107=) rs139642600 0.00002
NM_003809.3(TNFSF12):c.381C>T (p.Asp127=) rs576803878 0.00002
NM_012092.4(ICOS):c.105C>T (p.Asn35=) rs201031378 0.00002
NM_012092.4(ICOS):c.402A>G (p.Gln134=) rs776847112 0.00002
NM_012092.4(ICOS):c.471A>G (p.Gly157=) rs754099136 0.00002
NM_012092.4(ICOS):c.516T>C (p.Ser172=) rs150573153 0.00002
NM_012092.4(ICOS):c.586+20T>G rs750304925 0.00002
NM_012092.4(ICOS):c.9A>C (p.Ser3=) rs1360705806 0.00002
NM_003809.3(TNFSF12):c.105C>G (p.Leu35=) rs908438555 0.00001
NM_003809.3(TNFSF12):c.159+7C>A rs535840017 0.00001
NM_003809.3(TNFSF12):c.208-7C>G rs2070983662 0.00001
NM_003809.3(TNFSF12):c.318G>A (p.Ala106=) rs764045774 0.00001
NM_003809.3(TNFSF12):c.337+12G>A rs1367179093 0.00001
NM_003809.3(TNFSF12):c.337+14G>A rs751618286 0.00001
NM_003809.3(TNFSF12):c.499-10C>T rs1323154572 0.00001
NM_003809.3(TNFSF12):c.529C>T (p.Leu177=) rs1239258225 0.00001
NM_003809.3(TNFSF12):c.663G>T (p.Gly221=) rs776034989 0.00001
NM_012092.4(ICOS):c.163T>C (p.Leu55=) rs1291412174 0.00001
NM_012092.4(ICOS):c.177G>A (p.Gly59=) rs775111991 0.00001
NM_012092.4(ICOS):c.189C>T (p.Cys63=) rs537195517 0.00001
NM_012092.4(ICOS):c.390T>A (p.Ile130=) rs1257110059 0.00001
NM_012092.4(ICOS):c.411C>T (p.Cys137=) rs1260496726 0.00001
NM_012092.4(ICOS):c.522C>T (p.His174=) rs376555288 0.00001
NM_012092.4(ICOS):c.599A>G (p.Ter200=) rs1196963607 0.00001
NM_003809.3(TNFSF12):c.105C>T (p.Leu35=) rs908438555
NM_003809.3(TNFSF12):c.108C>T (p.Gly36=) rs2150904074
NM_003809.3(TNFSF12):c.120C>T (p.Ala40=)
NM_003809.3(TNFSF12):c.147G>A (p.Ser49=) rs1036232885
NM_003809.3(TNFSF12):c.159+7C>T rs535840017
NM_003809.3(TNFSF12):c.160-14C>T
NM_003809.3(TNFSF12):c.160-16C>T
NM_003809.3(TNFSF12):c.160-21_160-17del
NM_003809.3(TNFSF12):c.186A>G (p.Ala62=) rs2150904254
NM_003809.3(TNFSF12):c.207+10C>T
NM_003809.3(TNFSF12):c.207+11G>A rs1266540123
NM_003809.3(TNFSF12):c.207+14G>A
NM_003809.3(TNFSF12):c.207+17G>A
NM_003809.3(TNFSF12):c.207+18C>T
NM_003809.3(TNFSF12):c.207+19G>A
NM_003809.3(TNFSF12):c.208-15C>T
NM_003809.3(TNFSF12):c.208-19C>G
NM_003809.3(TNFSF12):c.208-8T>A rs2150904642
NM_003809.3(TNFSF12):c.219C>G (p.Pro73=) rs2150904657
NM_003809.3(TNFSF12):c.243T>C (p.Pro81=)
NM_003809.3(TNFSF12):c.246G>A (p.Ala82=)
NM_003809.3(TNFSF12):c.249T>C (p.Pro83=)
NM_003809.3(TNFSF12):c.258C>T (p.Asn86=)
NM_003809.3(TNFSF12):c.288T>G (p.Pro96=)
NM_003809.3(TNFSF12):c.312A>G (p.Arg104=) rs1326993093
NM_003809.3(TNFSF12):c.337+16G>A
NM_003809.3(TNFSF12):c.337+7G>A
NM_003809.3(TNFSF12):c.360C>T (p.Asp120=)
NM_003809.3(TNFSF12):c.366G>A (p.Ala122=) rs529570679
NM_003809.3(TNFSF12):c.373+17C>T
NM_003809.3(TNFSF12):c.373+18G>T
NM_003809.3(TNFSF12):c.375T>G (p.Gly125=)
NM_003809.3(TNFSF12):c.384G>A (p.Gly128=) rs1486694236
NM_003809.3(TNFSF12):c.393T>C (p.Ser131=)
NM_003809.3(TNFSF12):c.402G>A (p.Glu134=)
NM_003809.3(TNFSF12):c.417C>T (p.Asn139=)
NM_003809.3(TNFSF12):c.438C>T (p.Tyr146=)
NM_003809.3(TNFSF12):c.441C>T (p.Asn147=) rs2150909109
NM_003809.3(TNFSF12):c.465C>T (p.Val155=)
NM_003809.3(TNFSF12):c.498+12C>G
NM_003809.3(TNFSF12):c.498+7C>T
NM_003809.3(TNFSF12):c.498+9del rs1356188583
NM_003809.3(TNFSF12):c.499-4C>T rs993444940
NM_003809.3(TNFSF12):c.51C>A (p.Gly17=)
NM_003809.3(TNFSF12):c.535C>T (p.Leu179=) rs2150909482
NM_003809.3(TNFSF12):c.54C>T (p.Thr18=)
NM_003809.3(TNFSF12):c.573C>T (p.Cys191=)
NM_003809.3(TNFSF12):c.600G>A (p.Ala200=)
NM_003809.3(TNFSF12):c.609C>G (p.Leu203=) rs140608168
NM_003809.3(TNFSF12):c.60G>C (p.Leu20=)
NM_003809.3(TNFSF12):c.60G>T (p.Leu20=) rs898490512
NM_003809.3(TNFSF12):c.624C>A (p.Arg208=)
NM_003809.3(TNFSF12):c.651C>T (p.Ala217=)
NM_003809.3(TNFSF12):c.657G>A (p.Arg219=)
NM_003809.3(TNFSF12):c.657G>T (p.Arg219=) rs1363429844
NM_003809.3(TNFSF12):c.673C>A (p.Arg225=) rs761260715
NM_003809.3(TNFSF12):c.687C>T (p.Leu229=)
NM_003809.3(TNFSF12):c.69G>A (p.Pro23=)
NM_003809.3(TNFSF12):c.87C>T (p.Gly29=)
NM_003809.3(TNFSF12):c.90G>A (p.Leu30=)
NM_003809.3(TNFSF12):c.93G>A (p.Ala31=)
NM_003809.3(TNFSF12):c.96G>A (p.Leu32=)
NM_012092.4(ICOS):c.102C>T (p.His34=)
NM_012092.4(ICOS):c.186C>G (p.Leu62=) rs1553499319
NM_012092.4(ICOS):c.186C>T (p.Leu62=) rs1553499319
NM_012092.4(ICOS):c.249C>T (p.Cys83=)
NM_012092.4(ICOS):c.294C>T (p.Asn98=) rs2105754276
NM_012092.4(ICOS):c.336A>G (p.Ser112=) rs1335754145
NM_012092.4(ICOS):c.387T>C (p.His129=)
NM_012092.4(ICOS):c.394+14T>G
NM_012092.4(ICOS):c.394+17A>G
NM_012092.4(ICOS):c.394+19C>T
NM_012092.4(ICOS):c.394+7C>T rs2105754340
NM_012092.4(ICOS):c.394+9T>C rs1482892394
NM_012092.4(ICOS):c.395-15T>C rs2105754735
NM_012092.4(ICOS):c.395-17del
NM_012092.4(ICOS):c.395-18C>A
NM_012092.4(ICOS):c.395-19A>G
NM_012092.4(ICOS):c.395-4C>A
NM_012092.4(ICOS):c.427T>C (p.Leu143=)
NM_012092.4(ICOS):c.501+12C>T
NM_012092.4(ICOS):c.501+16C>G
NM_012092.4(ICOS):c.525C>T (p.Asp175=)
NM_012092.4(ICOS):c.552A>G (p.Arg184=) rs1471545594
NM_012092.4(ICOS):c.555A>G (p.Ala185=)
NM_012092.4(ICOS):c.576T>C (p.Ser192=)
NM_012092.4(ICOS):c.58+13T>C
NM_012092.4(ICOS):c.58+20T>G
NM_012092.4(ICOS):c.586+11A>G
NM_012092.4(ICOS):c.586+12T>C rs2105755616
NM_012092.4(ICOS):c.59-16C>A rs745431176
NM_012092.4(ICOS):c.59-7T>C
NM_012092.4(ICOS):c.595C>T (p.Leu199=)

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