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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)	rs1046474	0.11761
NM_013335.4(GMPPA):c.1162+18C>T	rs111553864	0.03828
NM_013335.4(GMPPA):c.945G>A (p.Glu315=)	rs13428617	0.02201
NM_013335.4(GMPPA):c.213C>T (p.Ala71=)	rs41272703	0.01225
NM_013335.4(GMPPA):c.40+15G>A	rs80239182	0.00978
NM_013335.4(GMPPA):c.441G>A (p.Thr147=)	rs150386940	0.00726
NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)	rs146215853	0.00322
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)	rs34873891	0.00230
NM_013335.4(GMPPA):c.489+16G>A	rs202131537	0.00085
NM_013335.4(GMPPA):c.366C>G (p.Pro122=)	rs186735505	0.00035
NM_013335.4(GMPPA):c.242+19G>A	rs201263031	0.00022
NM_013335.4(GMPPA):c.495G>A (p.Leu165=)	rs181901772	0.00020

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