ClinVar Miner

List of variants reported as uncertain significance 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: 6
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HGVS dbSNP
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_001352514.2(HLCS):c.2451-1G>A rs1158898827
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_006516.3(SLC2A1):c.274C>A (p.Arg92=) rs202060209

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