ClinVar Miner

List of variants reported as likely benign for Glucocorticoid deficiency with achalasia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353 0.07449
NM_015665.6(AAAS):c.1557T>C (p.Thr519=) rs112987708 0.02027
NM_015665.6(AAAS):c.1515T>C (p.Pro505=) rs35282133 0.00843
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg) rs34451260 0.00840
NM_015665.5(AAAS):c.*32C>T rs138994144 0.00246
NM_015665.6(AAAS):c.327G>T (p.Thr109=) rs190876509 0.00038
NM_015665.6(AAAS):c.234G>A (p.Lys78=) rs145519240 0.00002
NM_015665.6(AAAS):c.-70T>C rs186975061

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