ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000202.7(IDS):c.-217_103del320 rs1557340558
NM_000202.8(IDS):c.1006+1G>T rs869025308
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) rs869025306
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305

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