ClinVar Miner

List of variants reported as pathogenic for Glucocorticoid deficiency with achalasia by OMIM

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Total variants: 9
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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_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_015665.6(AAAS):c.400-2A>G rs1565781382
NM_015665.6(AAAS):c.980dup (p.Ser328fs) rs387906326

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