List of variants in gene PRKAG2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)	rs61746358	0.00056
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)	rs148056866	0.00021
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	rs397517270	0.00010
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)	rs200589374	0.00008
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)	rs144857453	0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)	rs182750960	0.00006
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)	rs760826751	0.00005
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)	rs730880989	0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)	rs145669999	0.00004
NM_016203.4(PRKAG2):c.*2C>T	rs199559205	0.00003
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)	rs767902787	0.00003
NM_016203.4(PRKAG2):c.1234-6G>A	rs780341115	0.00003
NM_016203.4(PRKAG2):c.1584+8G>A	rs762649633	0.00003
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)	rs767613486	0.00002
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)	rs752783859	0.00002
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)	rs730880984	0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)	rs397517264	0.00001
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)	rs267601424	0.00001
NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)	rs917493455	0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)	rs775005432	0.00001
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)	rs2151024095
NM_016203.4(PRKAG2):c.1102G>A (p.Ala368Thr)	rs769212614
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)	rs1563132006
NM_016203.4(PRKAG2):c.250C>A (p.Arg84=)	rs61746358
NM_016203.4(PRKAG2):c.250C>G (p.Arg84Gly)	rs61746358
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)	rs375174733
NM_016203.4(PRKAG2):c.520A>G (p.Thr174Ala)	rs1832789600
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)	rs397517273
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)	rs772303730

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