ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Mendelics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032

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