ClinVar Miner

List of variants reported as affects for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000202.8(IDS):c.1006+1G>A
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys)
NM_000202.8(IDS):c.182C>T (p.Ser61Phe)
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.263G>A (p.Arg88His)
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)
NM_000202.8(IDS):c.806A>T (p.Asp269Val) rs1085308006
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_002300.7(LDHB):c.19A>G (p.Lys7Glu) rs118203897
NM_002300.7(LDHB):c.385A>C (p.Ser129Arg) rs118203896
NM_002300.7(LDHB):c.515G>A (p.Arg172His) rs118203895
NM_002300.7(LDHB):c.973T>C (p.Trp325Arg) rs267607212
NM_006488.3(KHK):c.118G>A (p.Gly40Arg) rs104893643
NM_006488.3(KHK):c.127G>A (p.Ala43Thr) rs104893644
NM_013276.3(SHPK):c.211G>T (p.Glu71Ter) rs748544120
NM_013276.3(SHPK):c.355C>T (p.Arg119Ter) rs144071313
NM_016286.4(DCXR):c.52+1G>A rs375243154
NM_016286.4(DCXR):c.583del (p.His195fs) rs747887427

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