ClinVar Miner

List of variants studied for Glucocorticoid deficiency 4

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_182977.3(NNT):c.46C>T (p.Leu16=) rs10057103 0.64407
NM_182977.3(NNT):c.152-26_152-25insA rs139409541 0.51050
NM_182977.3(NNT):c.-26T>C rs12187908 0.23678
NM_182977.3(NNT):c.1098+17T>C rs16873430 0.01000
NM_182977.3(NNT):c.1817T>C (p.Val606Ala) rs139379760 0.00044
NM_182977.3(NNT):c.1424C>T (p.Thr475Met) rs141791856 0.00042
NM_182977.3(NNT):c.1765A>T (p.Thr589Ser) rs370370846 0.00027
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu) rs41271081 0.00001
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg) rs1451092520 0.00001
NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys) rs370273690 0.00001
NM_182977.3(NNT):c.385C>T (p.Arg129Ter) rs886039789 0.00001
NM_182977.3(NNT):c.1025T>C (p.Val342Ala)
NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer)
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer) rs786205345
NM_182977.3(NNT):c.1259dup (p.His421fs) rs864309519
NM_182977.3(NNT):c.1575dup (p.Pro526fs) rs1739624229
NM_182977.3(NNT):c.1598C>T (p.Ala533Val) rs387907232
NM_182977.3(NNT):c.1765A>G (p.Thr589Ala)
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg) rs2111899861
NM_182977.3(NNT):c.211C>T (p.Arg71Ter) rs886039790
NM_182977.3(NNT):c.2274del (p.Ile758fs) rs2111935997
NM_182977.3(NNT):c.2635-1G>T
NM_182977.3(NNT):c.2930T>C (p.Leu977Pro) rs387907233
NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro) rs387907234
NM_182977.3(NNT):c.598G>A (p.Gly200Ser) rs886039788
NM_182977.3(NNT):c.600-1del rs786205344
NM_182977.3(NNT):c.644T>C (p.Phe215Ser) rs886039786
NM_182977.3(NNT):c.80G>A (p.Arg27His) rs34241095
NM_182977.3(NNT):c.922T>C (p.Cys308Arg)
NM_182977.3(NNT):c.98dup (p.Leu33fs) rs1579966821

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