List of variants in gene combination ASIC4, GMPPA reported as likely benign for Alacrima, achalasia, and intellectual disability syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

Download table as spreadsheet

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.214G>A (p.Ala72Thr)	rs112693024	0.00118
NM_013335.4(GMPPA):c.756-10C>T	rs368738474	0.00061
NM_013335.4(GMPPA):c.858T>C (p.Asn286=)	rs145760617	0.00047
NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)	rs188765261	0.00044
NM_013335.4(GMPPA):c.750C>T (p.Ser250=)	rs367640773	0.00031
NM_013335.4(GMPPA):c.40+20G>A	rs373938536	0.00029
NM_013335.4(GMPPA):c.40+13G>A	rs199872147	0.00024
NM_013335.4(GMPPA):c.921C>T (p.Ile307=)	rs145170112	0.00022
NM_013335.4(GMPPA):c.345T>C (p.Ala115=)	rs761791232	0.00010
NM_013335.4(GMPPA):c.300C>T (p.Asp100=)	rs779526489	0.00006
NM_013335.4(GMPPA):c.138+9_138+10del	rs757832477	0.00005
NM_013335.4(GMPPA):c.516C>T (p.Ser172=)	rs765824301	0.00004
NM_013335.4(GMPPA):c.876C>T (p.Thr292=)	rs371527019	0.00003
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=)	rs781071244	0.00002
NM_013335.4(GMPPA):c.336G>A (p.Val112=)	rs372560013	0.00001
NM_013335.4(GMPPA):c.447C>T (p.Ser149=)	rs749971952	0.00001
NM_013335.4(GMPPA):c.571T>C (p.Leu191=)	rs560095573	0.00001
NM_013335.4(GMPPA):c.783C>T (p.Tyr261=)	rs778374979	0.00001
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
NM_013335.4(GMPPA):c.1173C>T (p.Val391=)
NM_013335.4(GMPPA):c.117C>T (p.His39=)
NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)
NM_013335.4(GMPPA):c.243-17C>T
NM_013335.4(GMPPA):c.41-16C>T
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)	rs36029384
NM_013335.4(GMPPA):c.486C>T (p.His162=)	rs36029384
NM_013335.4(GMPPA):c.490-16C>A	rs995824237
NM_013335.4(GMPPA):c.490-18A>G
NM_013335.4(GMPPA):c.490-6C>T
NM_013335.4(GMPPA):c.561T>C (p.Ser187=)
NM_013335.4(GMPPA):c.621-9C>T
NM_013335.4(GMPPA):c.630A>T (p.Ser210=)
NM_013335.4(GMPPA):c.66T>C (p.Phe22=)	rs1575219520
NM_013335.4(GMPPA):c.756-18C>A	rs1694544584

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.