ClinVar Miner

List of variants reported as likely benign for ZAP70-Related Severe Combined Immunodeficiency

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ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr) rs142702703 0.00058
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=) rs150096962 0.00037
NM_001079.4(ZAP70):c.1490C>T (p.Ser497Leu) rs149765220 0.00031
NM_001079.4(ZAP70):c.1290-11C>T rs201814622 0.00027
NM_001079.4(ZAP70):c.756G>A (p.Glu252=) rs150682182 0.00022
NM_001079.4(ZAP70):c.1624-13C>T rs201368684 0.00020
NM_001079.4(ZAP70):c.594C>T (p.Tyr198=) rs144360023 0.00015
NM_001079.4(ZAP70):c.889+7G>A rs56096305 0.00014
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu) rs201605654 0.00014
NM_001079.4(ZAP70):c.1722C>T (p.Asp574=) rs199831214 0.00012
NM_001079.4(ZAP70):c.639C>T (p.Ile213=) rs151031762 0.00012
NM_001079.4(ZAP70):c.774T>C (p.Ser258=) rs201015590 0.00012
NM_001079.4(ZAP70):c.828G>A (p.Thr276=) rs200797733 0.00010
NM_001079.4(ZAP70):c.1518C>T (p.Tyr506=) rs750794851 0.00009
NM_001079.4(ZAP70):c.1560C>T (p.Ser520=) rs184903382 0.00009
NM_001079.4(ZAP70):c.1623+8C>T rs762526632 0.00008
NM_001079.4(ZAP70):c.1083-7C>T rs182364803 0.00007
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=) rs189807102 0.00007
NM_001079.4(ZAP70):c.1290-16T>C rs779549199 0.00006
NM_001079.4(ZAP70):c.606C>T (p.Leu202=) rs199943332 0.00006
NM_001079.4(ZAP70):c.681C>T (p.Thr227=) rs200278286 0.00006
NM_001079.4(ZAP70):c.783C>T (p.Asn261=) rs200035151 0.00006
NM_001079.4(ZAP70):c.791-16C>T rs1017869021 0.00006
NM_001079.4(ZAP70):c.216C>T (p.Ala72=) rs199499629 0.00005
NM_001079.4(ZAP70):c.702+11C>T rs749089597 0.00005
NM_001079.4(ZAP70):c.702+9C>A rs780310846 0.00005
NM_001079.4(ZAP70):c.1083-19C>G rs755874106 0.00004
NM_001079.4(ZAP70):c.1111C>T (p.Leu371=) rs56202620 0.00004
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) rs193922633 0.00004
NM_001079.4(ZAP70):c.1289+9C>T rs376042049 0.00004
NM_001079.4(ZAP70):c.1443C>T (p.Gly481=) rs371850086 0.00004
NM_001079.4(ZAP70):c.1698C>T (p.Pro566=) rs201114954 0.00004
NM_001079.4(ZAP70):c.1737-10C>T rs200313714 0.00004
NM_001079.4(ZAP70):c.1737-9G>A rs201189274 0.00004
NM_001079.4(ZAP70):c.315G>A (p.Pro105=) rs542973270 0.00004
NM_001079.4(ZAP70):c.468G>A (p.Thr156=) rs200552725 0.00004
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001079.4(ZAP70):c.1140G>A (p.Thr380=) rs202016798 0.00003
NM_001079.4(ZAP70):c.1353C>T (p.Tyr451=) rs200693152 0.00003
NM_001079.4(ZAP70):c.1464C>T (p.Ala488=) rs200348949 0.00003
NM_001079.4(ZAP70):c.1764C>T (p.Thr588=) rs199772588 0.00003
NM_001079.4(ZAP70):c.310C>A (p.Arg104=) rs751420623 0.00003
NM_001079.4(ZAP70):c.549C>T (p.Thr183=) rs1267633145 0.00003
NM_001079.4(ZAP70):c.573G>C (p.Pro191=) rs762743272 0.00003
NM_001079.4(ZAP70):c.729G>A (p.Ala243=) rs754793583 0.00003
NM_001079.4(ZAP70):c.918G>A (p.Arg306=) rs200862014 0.00003
NM_001079.4(ZAP70):c.1290-18C>A rs374216712 0.00002
NM_001079.4(ZAP70):c.1623+9G>A rs201929256 0.00002
NM_001079.4(ZAP70):c.342C>T (p.Val114=) rs1008750552 0.00002
NM_001079.4(ZAP70):c.402+20C>T rs1243783040 0.00002
NM_001079.4(ZAP70):c.423C>T (p.Ala141=) rs758002455 0.00002
NM_001079.4(ZAP70):c.564-19C>T rs758526153 0.00002
NM_001079.4(ZAP70):c.837+17T>C rs775710963 0.00002
NM_001079.4(ZAP70):c.1012C>T (p.Leu338Phe) rs201221859 0.00001
NM_001079.4(ZAP70):c.1284C>G (p.Gly428=) rs200334904 0.00001
NM_001079.4(ZAP70):c.1389G>A (p.Ala463=) rs201712942 0.00001
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=) rs1289751768 0.00001
NM_001079.4(ZAP70):c.1416G>C (p.Arg472=) rs1161258869 0.00001
NM_001079.4(ZAP70):c.1428G>A (p.Lys476=) rs367624923 0.00001
NM_001079.4(ZAP70):c.1476C>T (p.Tyr492=) rs201580376 0.00001
NM_001079.4(ZAP70):c.1524C>T (p.Pro508=) rs1291542609 0.00001
NM_001079.4(ZAP70):c.180C>T (p.Pro60=) rs1677279173 0.00001
NM_001079.4(ZAP70):c.267C>T (p.Arg89=) rs777171551 0.00001
NM_001079.4(ZAP70):c.336G>A (p.Pro112=) rs1329950938 0.00001
NM_001079.4(ZAP70):c.352C>T (p.Leu118=) rs1483191291 0.00001
NM_001079.4(ZAP70):c.537T>C (p.Ser179=) rs780338175 0.00001
NM_001079.4(ZAP70):c.558G>A (p.Lys186=) rs779279138 0.00001
NM_001079.4(ZAP70):c.563+8G>T rs772011597 0.00001
NM_001079.4(ZAP70):c.565C>T (p.Leu189=) rs1225899511 0.00001
NM_001079.4(ZAP70):c.621G>A (p.Thr207=) rs769646311 0.00001
NM_001079.4(ZAP70):c.693G>A (p.Thr231=) rs147979285 0.00001
NM_001079.4(ZAP70):c.702+17A>C rs778857105 0.00001
NM_001079.4(ZAP70):c.791-12C>T rs201414967 0.00001
NM_001079.4(ZAP70):c.873A>C (p.Gly291=) rs746378071 0.00001
NM_001079.4(ZAP70):c.876C>T (p.Tyr292=) rs1446795574 0.00001
NM_001079.4(ZAP70):c.889+8G>C rs774658245 0.00001
NM_001079.4(ZAP70):c.1002C>T (p.Arg334=)
NM_001079.4(ZAP70):c.1023C>T (p.Asp341=) rs1336813841
NM_001079.4(ZAP70):c.1029A>G (p.Glu343=)
NM_001079.4(ZAP70):c.1065C>A (p.Gly355=) rs201207626
NM_001079.4(ZAP70):c.1068G>T (p.Val356=)
NM_001079.4(ZAP70):c.1082+10C>T
NM_001079.4(ZAP70):c.1082+12C>A rs1397871458
NM_001079.4(ZAP70):c.1082+15G>A
NM_001079.4(ZAP70):c.1082+16C>G rs201365297
NM_001079.4(ZAP70):c.1082+17C>A
NM_001079.4(ZAP70):c.1082+9G>A
NM_001079.4(ZAP70):c.1083-17G>A
NM_001079.4(ZAP70):c.1083-18C>T
NM_001079.4(ZAP70):c.1083-4G>T
NM_001079.4(ZAP70):c.1092C>A (p.Ile364=)
NM_001079.4(ZAP70):c.1101C>T (p.Ala367=) rs1573284566
NM_001079.4(ZAP70):c.1110G>A (p.Val370=)
NM_001079.4(ZAP70):c.1140G>C (p.Thr380=) rs202016798
NM_001079.4(ZAP70):c.1179G>A (p.Leu393=)
NM_001079.4(ZAP70):c.1227C>A (p.Ala409=)
NM_001079.4(ZAP70):c.1257C>T (p.Gly419=)
NM_001079.4(ZAP70):c.1278G>A (p.Leu426=)
NM_001079.4(ZAP70):c.1289+13T>G
NM_001079.4(ZAP70):c.1289+20G>A rs56408006
NM_001079.4(ZAP70):c.1289+20G>C rs56408006
NM_001079.4(ZAP70):c.1289+20G>T
NM_001079.4(ZAP70):c.1289+9C>G
NM_001079.4(ZAP70):c.1290-19G>A
NM_001079.4(ZAP70):c.1290-20C>T
NM_001079.4(ZAP70):c.1290-5C>A rs1677941076
NM_001079.4(ZAP70):c.1290-9C>T
NM_001079.4(ZAP70):c.1299C>A (p.Ile433=) rs542619486
NM_001079.4(ZAP70):c.129G>C (p.Leu43=)
NM_001079.4(ZAP70):c.1305G>A (p.Val435=)
NM_001079.4(ZAP70):c.1317C>T (p.Ala439=)
NM_001079.4(ZAP70):c.1335G>A (p.Val445=)
NM_001079.4(ZAP70):c.1368C>T (p.Asn456=) rs1402519359
NM_001079.4(ZAP70):c.1371T>C (p.Phe457=) rs2104703158
NM_001079.4(ZAP70):c.1398C>T (p.Asn466=)
NM_001079.4(ZAP70):c.1404G>A (p.Leu468=) rs1240162646
NM_001079.4(ZAP70):c.1434C>T (p.Ser478=)
NM_001079.4(ZAP70):c.1452A>G (p.Lys484=) rs2104703501
NM_001079.4(ZAP70):c.1479C>T (p.Tyr493=)
NM_001079.4(ZAP70):c.1482+7C>G
NM_001079.4(ZAP70):c.1509C>T (p.Leu503=) rs201016309
NM_001079.4(ZAP70):c.1593G>A (p.Glu531=)
NM_001079.4(ZAP70):c.1624-15C>T
NM_001079.4(ZAP70):c.1624-18_1624-17del
NM_001079.4(ZAP70):c.1624-4G>A
NM_001079.4(ZAP70):c.162G>A (p.Val54=) rs779049635
NM_001079.4(ZAP70):c.1635G>A (p.Gly545=)
NM_001079.4(ZAP70):c.1650C>T (p.Ala550=)
NM_001079.4(ZAP70):c.1653C>T (p.Phe551=) rs2104704993
NM_001079.4(ZAP70):c.1702C>T (p.Leu568=) rs780975280
NM_001079.4(ZAP70):c.1707C>T (p.Tyr569=)
NM_001079.4(ZAP70):c.1736+18G>A
NM_001079.4(ZAP70):c.1736+19G>A
NM_001079.4(ZAP70):c.1736+20G>C
NM_001079.4(ZAP70):c.1737-8C>A
NM_001079.4(ZAP70):c.1752C>G (p.Pro584=) rs199627332
NM_001079.4(ZAP70):c.1752C>T (p.Pro584=) rs199627332
NM_001079.4(ZAP70):c.1764C>G (p.Thr588=)
NM_001079.4(ZAP70):c.177T>C (p.Phe59=)
NM_001079.4(ZAP70):c.1797C>T (p.Ser599=) rs148332283
NM_001079.4(ZAP70):c.1818G>A (p.Gly606=) rs1248297399
NM_001079.4(ZAP70):c.264G>A (p.Ser88=)
NM_001079.4(ZAP70):c.276C>T (p.Asp92=)
NM_001079.4(ZAP70):c.279G>A (p.Gly93=)
NM_001079.4(ZAP70):c.318G>T (p.Ser106=)
NM_001079.4(ZAP70):c.324C>G (p.Leu108=)
NM_001079.4(ZAP70):c.330G>A (p.Pro110=)
NM_001079.4(ZAP70):c.330G>C (p.Pro110=)
NM_001079.4(ZAP70):c.369G>A (p.Val123=) rs201551373
NM_001079.4(ZAP70):c.403-11_403-10del
NM_001079.4(ZAP70):c.411C>T (p.Ala137=)
NM_001079.4(ZAP70):c.435G>A (p.Gln145=) rs1339335667
NM_001079.4(ZAP70):c.48G>A (p.Ser16=)
NM_001079.4(ZAP70):c.48G>C (p.Ser16=)
NM_001079.4(ZAP70):c.504G>C (p.Leu168=)
NM_001079.4(ZAP70):c.528A>G (p.Lys176=) rs2104665490
NM_001079.4(ZAP70):c.537T>G (p.Ser179=) rs780338175
NM_001079.4(ZAP70):c.543G>A (p.Ala181=) rs372103325
NM_001079.4(ZAP70):c.563+13C>T
NM_001079.4(ZAP70):c.564-13C>T
NM_001079.4(ZAP70):c.573G>A (p.Pro191=)
NM_001079.4(ZAP70):c.576G>A (p.Arg192=)
NM_001079.4(ZAP70):c.591A>G (p.Thr197=) rs1677670996
NM_001079.4(ZAP70):c.597C>A (p.Ala199=)
NM_001079.4(ZAP70):c.624G>A (p.Val208=) rs962265971
NM_001079.4(ZAP70):c.636C>T (p.Leu212=)
NM_001079.4(ZAP70):c.702+12G>A
NM_001079.4(ZAP70):c.703-6C>T
NM_001079.4(ZAP70):c.703-9T>C rs1677682540
NM_001079.4(ZAP70):c.714T>C (p.Tyr238=)
NM_001079.4(ZAP70):c.729G>C (p.Ala243=) rs754793583
NM_001079.4(ZAP70):c.786C>T (p.Ala262=) rs916598301
NM_001079.4(ZAP70):c.790+12_790+15dup rs761349565
NM_001079.4(ZAP70):c.790+16G>C rs55852368
NM_001079.4(ZAP70):c.791-14T>G
NM_001079.4(ZAP70):c.791-17C>A
NM_001079.4(ZAP70):c.791-17C>T
NM_001079.4(ZAP70):c.804C>T (p.Pro268=)
NM_001079.4(ZAP70):c.81G>A (p.Ala27=)
NM_001079.4(ZAP70):c.837+14del
NM_001079.4(ZAP70):c.852C>A (p.Ile284=) rs553261328
NM_001079.4(ZAP70):c.861C>A (p.Leu287=) rs2104690183
NM_001079.4(ZAP70):c.882T>C (p.Pro294=)
NM_001079.4(ZAP70):c.889+20G>C
NM_001079.4(ZAP70):c.890-14C>T rs1559326983
NM_001079.4(ZAP70):c.890-8G>A
NM_001079.4(ZAP70):c.90G>A (p.Ala30=)
NM_001079.4(ZAP70):c.90G>T (p.Ala30=)
NM_001079.4(ZAP70):c.936G>A (p.Thr312=)
NM_001079.4(ZAP70):c.936G>C (p.Thr312=) rs779465321
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg) rs145218891
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)
NM_001079.4(ZAP70):c.954C>T (p.Pro318=)
NM_001079.4(ZAP70):c.966A>C (p.Pro322=)
NM_001079.4(ZAP70):c.969G>A (p.Glu323=)
NM_001079.4(ZAP70):c.981C>T (p.Asp327=)
NM_001079.4(ZAP70):c.990C>T (p.Leu330=) rs1573282863

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