ClinVar Miner

List of variants studied for primary adrenal insufficiency by Genome-Nilou Lab

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.465+20A>G rs2720050 0.97715
NM_015665.6(AAAS):c.1088-59A>G rs4759287 0.96514
NM_013335.4(GMPPA):c.1162+37T>A rs10932808 0.95585
NM_015665.6(AAAS):c.251+59A>C rs4759232 0.94301
NM_015665.6(AAAS):c.689+71C>G rs7953255 0.93983
NM_015665.6(AAAS):c.252-142C>A rs7960963 0.93441
NM_015665.6(AAAS):c.124-33A>C rs7298879 0.92298
NM_015665.6(AAAS):c.124-20T>C rs4759231 0.92286
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808 0.91562
NM_000500.9(CYP21A2):c.118C>T (p.Leu40=) rs6468 0.82940
NM_006440.5(TXNRD2):c.1109T>C (p.Ile370Thr) rs1139793 0.77627
NM_000500.9(CYP21A2):c.292+9C>T rs6462 0.71669
NM_000500.9(CYP21A2):c.138C>A (p.Pro46=) rs6464 0.70511
NM_182977.3(NNT):c.46C>T (p.Leu16=) rs10057103 0.64407
NM_000497.4(CYP11B1):c.800-45C>T rs7822986 0.59689
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_182977.3(NNT):c.152-26_152-25insA rs139409541 0.51050
NM_006440.5(TXNRD2):c.177C>T (p.Ala59=) rs5748470 0.50192
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163 0.40112
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162 0.40089
NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser) rs5748469 0.35646
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_006440.5(TXNRD2):c.1086+17G>A rs2239893 0.25106
NM_000102.4(CYP17A1):c.436+105A>C rs743575 0.24877
NM_000102.4(CYP17A1):c.1243+113A>T rs10883783 0.24865
NM_182977.3(NNT):c.-26T>C rs12187908 0.23678
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_000102.4(CYP17A1):c.1243+83C>A rs284849 0.15759
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_000102.4(CYP17A1):c.666+35T>C rs1004467 0.13602
NM_006440.5(TXNRD2):c.662+14G>A rs9606176 0.13466
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=) rs1046474 0.11761
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385 0.00103
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter) rs765335418
NM_000497.4(CYP11B1):c.595+12G>A rs6387
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000529.2(MC2R):c.560del (p.Val187fs) rs1555619406
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg) rs761911005

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