List of variants in gene combination LOC129999660, PRKAG2 reported as likely benign for Lethal congenital glycogen storage disease of heart

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)	rs200736454	0.00051
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	rs201240745	0.00015
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)	rs781038088	0.00005
NM_016203.4(PRKAG2):c.685-5C>A	rs779931367	0.00002
NM_016203.4(PRKAG2):c.754+15C>T	rs760796110	0.00002
NM_016203.4(PRKAG2):c.685-12C>T	rs1824697718	0.00001
NM_016203.4(PRKAG2):c.685-7C>A	rs397517278	0.00001
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)	rs1184637689	0.00001
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)	rs777165701	0.00001
NM_016203.4(PRKAG2):c.754+14G>T	rs1554507743	0.00001
NM_016203.4(PRKAG2):c.754+17C>T	rs772286759	0.00001
NM_016203.4(PRKAG2):c.754+18G>A	rs748343279	0.00001
NM_016203.4(PRKAG2):c.685-11C>T
NM_016203.4(PRKAG2):c.685-15C>A
NM_016203.4(PRKAG2):c.685-19TCC[3]	rs1265462032
NM_016203.4(PRKAG2):c.685-19TCC[5]	rs1265462032
NM_016203.4(PRKAG2):c.685-20_685-18dup	rs2536960784
NM_016203.4(PRKAG2):c.685-5C>T	rs779931367
NM_016203.4(PRKAG2):c.685-6C>A	rs772481251
NM_016203.4(PRKAG2):c.685-6C>T	rs772481251
NM_016203.4(PRKAG2):c.685-8C>T	rs397517279
NM_016203.4(PRKAG2):c.685-9C>A	rs1824696243
NM_016203.4(PRKAG2):c.685-9C>T	rs1824696243
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)	rs756008063
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)	rs931540862
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)	rs1476121151
NM_016203.4(PRKAG2):c.711C>G (p.Pro237=)	rs1824666366
NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)	rs1437570539
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)	rs752351250
NM_016203.4(PRKAG2):c.754+10C>A	rs1162430810
NM_016203.4(PRKAG2):c.754+10C>T	rs1162430810
NM_016203.4(PRKAG2):c.754+11C>T	rs1824632372
NM_016203.4(PRKAG2):c.754+17C>A	rs772286759
NM_016203.4(PRKAG2):c.754+19C>G	rs1824623715
NM_016203.4(PRKAG2):c.754+19_754+24del	rs1287642826

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