ClinVar Miner

List of variants in gene PRKAG2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633 0.00003
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=) rs1057520352 0.00001
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=) rs145029525

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