ClinVar Miner

List of variants in gene AAAS studied for adrenal gland disease

Included ClinVar conditions (124):
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Gene type:
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Total variants: 48
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HGVS dbSNP
NM_015665.5(AAAS):c.*32C>T rs138994144
NM_015665.6(AAAS):c.-130C>T rs149864679
NM_015665.6(AAAS):c.-73G>A rs561616104
NM_015665.6(AAAS):c.-84G>A rs886049653
NM_015665.6(AAAS):c.1087+1G>A rs1035139364
NM_015665.6(AAAS):c.1140_1143TCTG[1] (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652
NM_015665.6(AAAS):c.124-4A>G rs886049651
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966
NM_015665.6(AAAS):c.1249+8G>A rs200834285
NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe) rs121918551
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822
NM_015665.6(AAAS):c.1331+1G>A rs150511103
NM_015665.6(AAAS):c.1416+8C>T rs370325323
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649
NM_015665.6(AAAS):c.1515T>C (p.Pro505=) rs35282133
NM_015665.6(AAAS):c.1557T>C (p.Thr519=) rs112987708
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg) rs34451260
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015665.6(AAAS):c.234G>A (p.Lys78=) rs145519240
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218
NM_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.936_937del (p.Val313Leufs)
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326
NM_015665.6(AAAS):c.996+12C>T rs200312077

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