List of variants in gene combination ABHD14A-ACY1, ACY1 reported by CeGaT Center for Human Genetics Tuebingen

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_000666.3(ACY1):c.1178G>A (p.Arg393His)	rs121912701	0.00345
NM_000666.3(ACY1):c.81C>G (p.Pro27=)	rs141824939	0.00294
NM_000666.3(ACY1):c.69C>G (p.Arg23=)	rs34017492	0.00284
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)	rs121912698	0.00260
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys)	rs140738368	0.00032
NM_000666.3(ACY1):c.575dup (p.Ser192fs)	rs770702363	0.00014
NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln)	rs150480963	0.00006
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp)	rs148346337	0.00002
NM_000666.3(ACY1):c.474C>T (p.Phe158=)	rs745793135	0.00001
NM_000666.3(ACY1):c.436G>T (p.Asp146Tyr)	rs1577727472

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