List of variants in gene combination ASIC4, GMPPA reported as pathogenic 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: 11

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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.1096C>T (p.Arg366Ter)	rs770582052	0.00003
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)	rs397518460	0.00001
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)	rs397518461
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)	rs1694593071
NM_013335.4(GMPPA):c.118del (p.His40fs)
NM_013335.4(GMPPA):c.210del (p.Ala71fs)	rs886037654
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)	rs397518462
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)	rs2125639654
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
NM_013335.4(GMPPA):c.853+1G>A	rs1553624347

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