ClinVar Miner

List of variants studied for combined immunodeficiency due to ZAP70 deficiency

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_001079.4(ZAP70):c.*29G>A rs11678558 0.27539
NM_001079.4(ZAP70):c.1482+11G>T rs17488834 0.26795
NM_001079.4(ZAP70):c.563+13C>G rs2289918 0.15954
NM_001079.4(ZAP70):c.*289G>C rs2278699 0.14427
NM_001079.4(ZAP70):c.-59T>C rs55637939 0.03071
NM_001079.4(ZAP70):c.672C>T (p.Pro224=) rs56340622 0.01110
NM_001079.4(ZAP70):c.447G>A (p.Val149=) rs61735392 0.00384
NM_001079.4(ZAP70):c.531T>C (p.Leu177=) rs115846138 0.00358
NM_001079.4(ZAP70):c.105G>A (p.Leu35=) rs56127120 0.00353
NM_001079.4(ZAP70):c.810C>T (p.Leu270=) rs143181735 0.00272
NM_001079.4(ZAP70):c.1082+8C>T rs55933862 0.00271
NM_001079.4(ZAP70):c.1737-3C>T rs56249179 0.00100
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=) rs55997284 0.00094
NM_001079.4(ZAP70):c.1289+10G>A rs200538234 0.00088
NM_001079.4(ZAP70):c.1624-12C>T rs201487332 0.00086
NM_001079.4(ZAP70):c.-133C>T rs201616095 0.00081
NM_001079.4(ZAP70):c.-177C>A rs56408911 0.00076
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.1645A>G (p.Met549Val) rs150950017 0.00036
NM_001079.4(ZAP70):c.*11C>A rs200035333 0.00031
NM_001079.4(ZAP70):c.*328C>T rs201790312 0.00019
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu) rs201605654 0.00014
NM_001079.3(ZAP70):c.-217G>A rs201824270 0.00013
NM_001079.4(ZAP70):c.*274G>A rs55721260 0.00012
NM_001079.4(ZAP70):c.828G>A (p.Thr276=) rs200797733 0.00010
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=) rs189807102 0.00007
NM_001079.4(ZAP70):c.606C>T (p.Leu202=) rs199943332 0.00006
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) rs371574765 0.00005
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) rs201683657 0.00004
NM_001079.4(ZAP70):c.837+6T>C rs199639189 0.00004
NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu) rs201386206 0.00004
NM_001079.4(ZAP70):c.*161G>A rs886056486 0.00003
NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile) rs371359430 0.00003
NM_001079.4(ZAP70):c.729G>A (p.Ala243=) rs754793583 0.00003
NM_001079.4(ZAP70):c.790+6G>A rs200018109 0.00002
NM_001079.4(ZAP70):c.*228G>A rs199863225 0.00001
NM_001079.4(ZAP70):c.*48C>T rs1411918610 0.00001
NM_001079.4(ZAP70):c.-91T>A rs199757796 0.00001
NM_001079.4(ZAP70):c.1078C>T (p.Arg360Cys) rs781463009 0.00001
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) rs869025224 0.00001
NM_001079.4(ZAP70):c.1083-3C>A rs199890589 0.00001
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=) rs1289751768 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001079.4(ZAP70):c.403-3T>C rs202193449 0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) rs199840952 0.00001
NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser) rs200295650 0.00001
NM_001079.4(ZAP70):c.-186C>A rs2276645
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=) rs201207626
NM_001079.4(ZAP70):c.1394G>A (p.Arg465His) rs137853201
NM_001079.4(ZAP70):c.1510_1522del (p.Lys504fs) rs730880319
NM_001079.4(ZAP70):c.1554C>A (p.Ser518Arg) rs104893674
NM_001079.4(ZAP70):c.156C>T (p.His52=) rs138447206
NM_001079.4(ZAP70):c.1624-11G>A rs730880318
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu) rs113994175
NM_001079.4(ZAP70):c.1737-7C>T rs1573292727
NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys) rs745420613
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln) rs113994172
NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg) rs1266171275
NM_001079.4(ZAP70):c.474C>T (p.His158=) rs56404668
NM_001079.4(ZAP70):c.493del (p.His165fs)
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) rs199631517
NM_001079.4(ZAP70):c.516G>A (p.Glu172=) rs886056485
NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu) rs373708142
NM_001079.4(ZAP70):c.838-80G>A rs113994173
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg) rs145218891
NM_001079.4(ZAP70):c.939C>T (p.Ser313=)

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