ClinVar Miner

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

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00036
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
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.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) rs397517268 0.00004
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.1071A>T (p.Thr357=) rs397517260 0.00001
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.393C>T (p.Ser131=) rs1057520352 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 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.905G>A (p.Arg302Gln) rs121908987 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.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=) rs1563132006
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
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.255C>T (p.Pro85=)
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
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
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=) rs587781126
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=) rs397517284

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