ClinVar Miner

List of variants studied for congenital isolated adrenocorticotropic hormone deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_005149.3(TBX19):c.*21T>A rs3885717 0.43776
NM_005149.3(TBX19):c.*251T>C rs1000533 0.26364
NM_005149.3(TBX19):c.603+11G>T rs12096093 0.14406
NM_005149.3(TBX19):c.*479G>C rs1003315 0.03197
NM_005149.3(TBX19):c.*26C>G rs143627386 0.02303
NM_005149.3(TBX19):c.*1155C>G rs77202012 0.02199
NM_005149.3(TBX19):c.*469G>A rs16860362 0.01991
NM_005149.3(TBX19):c.917-14G>A rs71632355 0.01897
NM_005149.3(TBX19):c.*186G>A rs10918869 0.01378
NM_005149.3(TBX19):c.105C>T (p.Asp35=) rs34284181 0.00937
NM_005149.3(TBX19):c.1122C>T (p.His374=) rs34885709 0.00575
NM_005149.3(TBX19):c.*544G>A rs144304383 0.00566
NM_005149.3(TBX19):c.761T>C (p.Val254Ala) rs77425733 0.00523
NM_005149.3(TBX19):c.1053-11dup rs138050448 0.00465
NM_005149.3(TBX19):c.*267A>G rs146307337 0.00347
NM_005149.3(TBX19):c.*371C>G rs188457637 0.00318
NM_005149.3(TBX19):c.-21G>A rs187423054 0.00201
NM_005149.3(TBX19):c.315C>T (p.Asn105=) rs143801899 0.00111
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_005149.3(TBX19):c.*1234C>T rs149712948 0.00066
NM_005149.3(TBX19):c.*781A>G rs575063780 0.00062
NM_005149.3(TBX19):c.*1235G>A rs112010969 0.00036
NM_005149.3(TBX19):c.*258A>C rs771131598 0.00031
NM_005149.3(TBX19):c.*273A>G rs755252476 0.00029
NM_005149.3(TBX19):c.*1204T>C rs548141259 0.00019
NM_005149.3(TBX19):c.*1251C>T rs377117067 0.00019
NM_005149.3(TBX19):c.603+15G>T rs886045513 0.00019
NM_005149.3(TBX19):c.597T>C (p.Asn199=) rs143377172 0.00017
NM_005149.3(TBX19):c.*809A>G rs962423588 0.00016
NM_005149.3(TBX19):c.1090G>A (p.Gly364Arg) rs199644548 0.00016
NM_005149.3(TBX19):c.728-7A>G rs752195406 0.00016
NM_005149.3(TBX19):c.*1026T>C rs945775793 0.00011
NM_005149.3(TBX19):c.724C>T (p.His242Tyr) rs202072731 0.00011
NM_005149.3(TBX19):c.*954C>T rs140853969 0.00009
NM_005149.3(TBX19):c.*654T>G rs886045518 0.00007
NM_005149.3(TBX19):c.1147C>T (p.Leu383Phe) rs200775601 0.00006
NM_005149.3(TBX19):c.603+13G>T rs762160668 0.00006
NM_005149.3(TBX19):c.959C>T (p.Ser320Leu) rs772038103 0.00006
NM_005149.3(TBX19):c.*746A>G rs553418600 0.00005
NM_005149.3(TBX19):c.310G>A (p.Val104Ile) rs762183325 0.00004
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_005149.3(TBX19):c.*1230C>T rs775873047 0.00003
NM_005149.3(TBX19):c.840G>A (p.Glu280=) rs753572197 0.00003
NM_005149.3(TBX19):c.*88G>A rs980005154 0.00002
NM_005149.3(TBX19):c.*1266C>T rs544283210 0.00001
NM_005149.3(TBX19):c.1165A>G (p.Thr389Ala) rs144416092 0.00001
NM_005149.3(TBX19):c.39T>G (p.Asp13Glu) rs886045508 0.00001
NM_005149.3(TBX19):c.536G>A (p.Arg179Gln) rs139968594 0.00001
NM_005149.3(TBX19):c.814G>T (p.Ala272Ser) rs752325337 0.00001
NM_005149.3(TBX19):c.*1109dup rs550552066
NM_005149.3(TBX19):c.*1325T>C rs886045520
NM_005149.3(TBX19):c.*243T>C rs886045515
NM_005149.3(TBX19):c.*30G>A rs778394368
NM_005149.3(TBX19):c.*363AG[1] rs886045516
NM_005149.3(TBX19):c.*587G>C rs1649574851
NM_005149.3(TBX19):c.*618CTC[1] rs780261050
NM_005149.3(TBX19):c.*695G>A rs891536291
NM_005149.3(TBX19):c.*922GAAA[5] rs67726248
NM_005149.3(TBX19):c.194A>G (p.Lys65Arg) rs886045509
NM_005149.3(TBX19):c.524G>T (p.Gly175Val) rs1648991442
NM_005149.3(TBX19):c.603+10_603+11insTT rs373712384
NM_005149.3(TBX19):c.603+10_603+11insTTGT rs72294615
NM_005149.3(TBX19):c.603+10_603+11insTTGTGT rs746785887
NM_005149.3(TBX19):c.603+6_603+7insCTGTGT rs746838916
NM_005149.3(TBX19):c.603+7GT[18] rs57039241
NM_005149.3(TBX19):c.603+7GT[19] rs57039241
NM_005149.3(TBX19):c.603+7GT[20] rs57039241
NM_005149.3(TBX19):c.603+7GT[22] rs57039241
NM_005149.3(TBX19):c.603+7GT[23] rs57039241
NM_005149.3(TBX19):c.603+7GT[24] rs57039241
NM_005149.3(TBX19):c.603+7GT[25] rs57039241
NM_005149.3(TBX19):c.779C>T (p.Ser260Phe) rs1215287541
NM_005149.3(TBX19):c.932G>A (p.Ser311Asn) rs1649461770

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