List of variants in gene ADCY5 reported as pathogenic by Ambry Genetics

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483
NM_183357.3(ADCY5):c.1312dup (p.Arg438fs)	rs1553732126
NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met)	rs757156390
NM_183357.3(ADCY5):c.409_428del (p.Gly137fs)	rs1553751262
NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs)	rs1553751262

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