ClinVar Miner

List of variants reported as pathogenic for Alacrima, achalasia, and intellectual disability syndrome by Invitae

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)	rs745806762	0.00007
NM_013335.4(GMPPA):c.118del (p.His40fs)
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)

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