ClinVar Miner

List of variants studied for carbohydrate metabolism disease by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_001166158.1(PDHX):c.-197del rs1158194122
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) rs202060209

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