ClinVar Miner

List of variants in gene GMPPB reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_013334.3(GMPPB):c.1098C>T (p.Asn366=) rs147074020
NM_013334.3(GMPPB):c.1129G>A (p.Gly377Ser) rs184127567
NM_013334.3(GMPPB):c.210+9_210+10del rs776779111
NM_013334.3(GMPPB):c.309T>C (p.Pro103=) rs147516683
NM_013334.3(GMPPB):c.960G>A (p.Leu320=) rs55816606
NM_021971.2(GMPPB):c.130-6T>G rs369862012
NM_021971.2(GMPPB):c.459A>G (p.Thr153=) rs140968388
NM_021971.2(GMPPB):c.562-9C>A rs183240200

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