ClinVar Miner

List of variants studied for Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency by Illumina Laboratory Services, Illumina

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) rs762679 0.88261
NM_005914.3(MCM4):c.-444A>C rs1551655 0.23049
NM_182746.3(MCM4):c.*1305del rs17334556 0.04078
NM_182746.3(MCM4):c.*358T>C rs17287761 0.04003
NM_182746.3(MCM4):c.*71C>A rs17334535 0.03423
NM_005914.3(MCM4):c.-253C>T rs17334305 0.02181
NM_182746.3(MCM4):c.*214G>A rs17287753 0.02104
NM_182746.3(MCM4):c.*197T>C rs17334542 0.01714
NM_182746.3(MCM4):c.*1256A>G rs17334549 0.01166
NM_182746.3(MCM4):c.2064G>A (p.Lys688=) rs143488457 0.00503
NM_182746.3(MCM4):c.236-4A>G rs2305952 0.00339
NM_182746.3(MCM4):c.858C>T (p.Ser286=) rs17334388 0.00337
NM_182746.3(MCM4):c.*819C>A rs17287775 0.00328
NM_182746.3(MCM4):c.1209A>G (p.Pro403=) rs17287656 0.00318
NM_182746.3(MCM4):c.1053+4C>T rs17334395 0.00313
NM_182746.3(MCM4):c.1659A>G (p.Thr553=) rs17287677 0.00313
NM_182746.3(MCM4):c.2365+4C>T rs17287739 0.00297
NM_005914.3(MCM4):c.-205C>T rs17287526 0.00226
NM_182746.3(MCM4):c.-65A>T rs552020479 0.00211
NM_005914.3(MCM4):c.-745_-744delAA rs530578769 0.00207
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344 0.00202
NM_182746.3(MCM4):c.*842G>A rs17287781 0.00196
NM_182746.3(MCM4):c.961C>T (p.Arg321Cys) rs142732823 0.00188
NM_005914.3(MCM4):c.-453T>C rs539732672 0.00181
NM_182746.3(MCM4):c.833-14T>C rs191317744 0.00131
NM_182746.3(MCM4):c.*387T>C rs144432703 0.00116
NM_182746.3(MCM4):c.1569G>A (p.Val523=) rs765660789 0.00109
NM_182746.3(MCM4):c.*56G>A rs375801965 0.00108
NM_182746.3(MCM4):c.*871G>A rs192670035 0.00108
NM_182746.3(MCM4):c.2102G>A (p.Arg701Gln) rs143417982 0.00078
NM_005914.3(MCM4):c.-479A>G rs571102789 0.00059
NM_182746.3(MCM4):c.*955A>G rs529512295 0.00059
NM_005914.3(MCM4):c.-754G>A rs180692385 0.00053
NM_182746.3(MCM4):c.848T>C (p.Ile283Thr) rs149232439 0.00053
NM_182746.3(MCM4):c.487A>G (p.Lys163Glu) rs34206069 0.00049
NM_182746.3(MCM4):c.*148A>G rs117499589 0.00048
NM_182746.3(MCM4):c.*255A>G rs544019622 0.00040
NM_182746.3(MCM4):c.-14-50G>A rs886062973 0.00029
NM_182746.3(MCM4):c.-68G>T rs17287533 0.00029
NM_182746.3(MCM4):c.743G>A (p.Arg248His) rs146842638 0.00029
NM_182746.3(MCM4):c.*882G>A rs576678949 0.00026
NM_182746.3(MCM4):c.1175-7C>T rs372261482 0.00022
NM_182746.3(MCM4):c.*1134A>C rs11553127 0.00021
NM_182746.3(MCM4):c.2257G>C (p.Val753Leu) rs150870761 0.00021
NM_182746.3(MCM4):c.240C>T (p.Ile80=) rs148927296 0.00017
NM_005914.3(MCM4):c.-501A>G rs570195176 0.00016
NM_182746.3(MCM4):c.31C>G (p.Arg11Gly) rs369039102 0.00016
NM_182746.3(MCM4):c.*453A>G rs945047640 0.00015
NM_005914.3(MCM4):c.-473G>A rs537563295 0.00014
NM_182746.3(MCM4):c.*109T>C rs1019587652 0.00014
NM_182746.3(MCM4):c.1829G>A (p.Arg610His) rs151044076 0.00013
NM_005914.3(MCM4):c.-407G>A rs546045069 0.00011
NM_182746.3(MCM4):c.-15+55C>T rs891829243 0.00011
NM_182746.3(MCM4):c.899A>G (p.Gln300Arg) rs144012681 0.00011
NM_005914.3(MCM4):c.-721dup rs886062967 0.00009
NM_182746.3(MCM4):c.*877G>A rs184913079 0.00007
NM_182746.3(MCM4):c.*315G>A rs751753458 0.00006
NM_005914.3(MCM4):c.-347C>A rs886062970 0.00005
NM_005914.3(MCM4):c.-372G>A rs17334298 0.00005
NM_182746.3(MCM4):c.*1266G>A rs539412503 0.00005
NM_182746.3(MCM4):c.*357A>C rs1049961235 0.00005
NM_182746.3(MCM4):c.-33A>G rs1166597379 0.00005
NM_182746.3(MCM4):c.891C>T (p.Pro297=) rs148576543 0.00005
NM_182746.3(MCM4):c.*850T>A rs148413389 0.00004
NM_182746.3(MCM4):c.-14-41C>T rs577633841 0.00004
NM_182746.3(MCM4):c.859G>A (p.Gly287Ser) rs751016435 0.00004
NM_182746.3(MCM4):c.*438A>G rs886062981 0.00003
NM_182746.3(MCM4):c.*443G>A rs552183222 0.00003
NM_182746.3(MCM4):c.-74C>T rs559247482 0.00003
NM_182746.3(MCM4):c.1264C>T (p.Arg422Trp) rs78091557 0.00003
NM_182746.3(MCM4):c.1929-6T>C rs567917422 0.00003
NM_182746.3(MCM4):c.1973A>G (p.Tyr658Cys) rs771448184 0.00003
NM_182746.3(MCM4):c.811A>G (p.Met271Val) rs764420223 0.00003
NM_182746.3(MCM4):c.693G>A (p.Gln231=) rs557349481 0.00002
NM_182746.3(MCM4):c.-48G>T rs886062972 0.00001
NM_182746.3(MCM4):c.159C>T (p.Thr53=) rs775056163 0.00001
NM_182746.3(MCM4):c.187G>T (p.Ala63Ser) rs886062974 0.00001
NM_182746.3(MCM4):c.199G>A (p.Val67Met) rs755044869 0.00001
NM_182746.3(MCM4):c.2296C>T (p.Arg766Trp) rs149597772 0.00001
NM_182746.3(MCM4):c.241C>T (p.Pro81Ser) rs886062975 0.00001
NM_182746.3(MCM4):c.253G>T (p.Asp85Tyr) rs760802348 0.00001
NM_182746.3(MCM4):c.440G>A (p.Gly147Asp) rs886062976 0.00001
NM_182746.3(MCM4):c.589C>T (p.Leu197Phe) rs1349008800 0.00001
NM_182746.3(MCM4):c.693+7A>G rs755216810 0.00001
NM_182746.3(MCM4):c.715A>G (p.Met239Val) rs752863422 0.00001
NM_182746.3(MCM4):c.940C>T (p.Arg314Trp) rs750729954 0.00001
NM_182746.3(MCM4):c.99C>T (p.Pro33=) rs199890906 0.00001
NM_005914.3(MCM4):c.-320dup rs532945813
NM_005914.3(MCM4):c.-646delG rs376290735
NM_005914.3(MCM4):c.-701C>A rs886062968
NM_182746.3(MCM4):c.*1140G>A rs2091015101
NM_182746.3(MCM4):c.*1234T>C rs1219129728
NM_182746.3(MCM4):c.*125A>G rs886062979
NM_182746.3(MCM4):c.*213C>T rs886062980
NM_182746.3(MCM4):c.*37C>T rs1265494155
NM_182746.3(MCM4):c.*484del rs886062982
NM_182746.3(MCM4):c.*507del rs34372744
NM_182746.3(MCM4):c.*537T>C rs568975576
NM_182746.3(MCM4):c.-14-39G>A rs2090820585
NM_182746.3(MCM4):c.-77G>A rs921147935
NM_182746.3(MCM4):c.1097C>T (p.Thr366Ile) rs756135528
NM_182746.3(MCM4):c.1103A>C (p.His368Pro) rs2090910060
NM_182746.3(MCM4):c.1419T>G (p.His473Gln) rs755120277
NM_182746.3(MCM4):c.1511T>C (p.Ile504Thr) rs2090944031
NM_182746.3(MCM4):c.1578C>G (p.Leu526=) rs34157149
NM_182746.3(MCM4):c.1578C>T (p.Leu526=) rs34157149
NM_182746.3(MCM4):c.157A>G (p.Thr53Ala) rs200598421
NM_182746.3(MCM4):c.1728C>T (p.Phe576=) rs148525401
NM_182746.3(MCM4):c.1844C>G (p.Ala615Gly) rs886062978
NM_182746.3(MCM4):c.2012A>G (p.Tyr671Cys) rs991671311
NM_182746.3(MCM4):c.2082G>C (p.Ala694=) rs201709288
NM_182746.3(MCM4):c.2172G>A (p.Arg724=) rs367938513
NM_182746.3(MCM4):c.2341G>A (p.Val781Met) rs765226208
NM_182746.3(MCM4):c.235+4C>G rs749639468
NM_182746.3(MCM4):c.2531T>C (p.Leu844Pro) rs1208915343
NM_182746.3(MCM4):c.502-8A>G rs2090856775
NM_182746.3(MCM4):c.686dup (p.Tyr229Ter) rs1563831163
NM_182746.3(MCM4):c.978T>C (p.Ser326=) rs886062977

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