List of variants in gene combination CHAT, SLC18A3 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)	rs8187730	0.99621
NM_003055.3(SLC18A3):c.*39G>T	rs2269338	0.12794
NM_003055.3(SLC18A3):c.396T>C (p.Ala132=)	rs8175353	0.02533
NM_003055.3(SLC18A3):c.1445G>A (p.Arg482His)	rs558868462	0.00001
NM_003055.3(SLC18A3):c.334C>T (p.Arg112Trp)	rs1323111953
NM_003055.3(SLC18A3):c.347del (p.Pro116fs)	rs1554800550
NM_003055.3(SLC18A3):c.599T>A (p.Ile200Asn)	rs1554800621
NM_003055.3(SLC18A3):c.661A>G (p.Ile221Val)	rs2132686941
NM_003055.3(SLC18A3):c.779T>A (p.Leu260Gln)	rs1838295861
NM_003055.3(SLC18A3):c.945G>A (p.Trp315Ter)	rs1554800734

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