ClinVar Miner

List of variants reported for Glucocorticoid deficiency with achalasia by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs) rs2121082201
NM_015665.6(AAAS):c.649A>G (p.Ile217Val) rs1174490469

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