ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (161):
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ClinVar version:
Total variants: 19
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HGVS dbSNP
NC_012920.1:m.3243A>G rs199474657
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046
NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) rs121908979
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.249+1G>A
NM_001931.5(DLAT):c.976-1G>A rs367875541
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713

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