ClinVar Miner

List of variants in gene GMPPB reported as pathogenic for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_013334.3(GMPPB):c.220C>T (p.Arg74Ter) rs397509423
NM_013334.3(GMPPB):c.271_283del (p.Ala91fs)
NM_013334.3(GMPPB):c.365_366dup (p.Phe123fs) rs1553691975
NM_013334.3(GMPPB):c.456_457CA[1] (p.Thr153fs) rs1553691918
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_013334.3(GMPPB):c.79G>C (p.Asp27His) rs142336618
NM_013334.3(GMPPB):c.860G>A (p.Arg287Gln) rs202160208
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_021971.2(GMPPB):c.656T>C (p.Ile219Thr)
NM_021971.2(GMPPB):c.790C>T (p.Gln264Ter)
NM_021971.2(GMPPB):c.859C>T (p.Arg287Trp) rs142908436
NM_021971.2:c.109C>T

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