ClinVar Miner

List of variants reported as likely benign for Alacrima, achalasia, and intellectual disability syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_013335.4(GMPPA):c.213C>T (p.Ala71=) rs41272703 0.01225
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser) rs34873891 0.00230
NM_013335.4(GMPPA):c.300C>T (p.Asp100=) rs779526489 0.00006
NM_013335.4(GMPPA):c.876C>T (p.Thr292=) rs371527019 0.00003

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