List of variants in gene AAAS reported as pathogenic for adrenocortical insufficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	rs121918548	0.00007
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	rs121918550	0.00005
NM_015665.6(AAAS):c.1191dup (p.Glu398fs)	rs746305979	0.00003
NM_015665.6(AAAS):c.1331+1G>A	rs150511103	0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_015665.6(AAAS):c.1087+1G>A	rs1035139364	0.00001
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)	rs754078574	0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His)	rs758440592	0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)	rs121918547	0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)	rs773601814	0.00001
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)	rs770214071
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)	rs2121082201
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)	rs2121081165
NM_015665.6(AAAS):c.211del (p.His71fs)	rs765577880
NM_015665.6(AAAS):c.250del (p.Trp84fs)	rs2136820957
NM_015665.6(AAAS):c.399+1G>A	rs2136811976
NM_015665.6(AAAS):c.400-2A>G	rs1565781382
NM_015665.6(AAAS):c.446+1G>A	rs2136811371
NM_015665.6(AAAS):c.500C>T (p.Ala167Val)	rs1017700992
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)	rs758057774
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)	rs1944347921
NM_015665.6(AAAS):c.885G>A (p.Trp295Ter)	rs766542823
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)	rs1450008394
NM_015665.6(AAAS):c.980dup (p.Ser328fs)	rs387906326

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