List of variants studied for triple-A syndrome by OMIM

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Total variants: 15

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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.1331+1G>A	rs150511103	0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	rs121918549	0.00003
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)	rs397518460	0.00001
NM_015665.6(AAAS):c.1087+1G>A	rs1035139364	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_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)	rs397518461
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)	rs1694593071
NM_013335.4(GMPPA):c.210del (p.Ala71fs)	rs886037654
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)	rs397518462
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)	rs2125639654
NM_015665.6(AAAS):c.400-2A>G	rs1565781382
NM_015665.6(AAAS):c.980dup (p.Ser328fs)	rs387906326

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