ClinVar Miner

List of variants reported as likely pathogenic for Alacrima, achalasia, and intellectual disability syndrome by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)	rs2125629897

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