ClinVar Miner

List of variants reported as benign for Lethal congenital glycogen storage disease of heart by Invitae

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.114+13034A>G rs4726104 0.49619
NM_016203.4(PRKAG2):c.467-12630G>T rs1860746 0.17340
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
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.1234-317T>G rs141541040 0.00473
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.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg) rs1280299073 0.00001
NM_016203.4(PRKAG2):c.1006-9del rs775574266
NM_016203.4(PRKAG2):c.1006-9dup rs775574266
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
NM_016203.4(PRKAG2):c.754+13dup rs747490039
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000

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