ClinVar Miner

List of variants reported as likely pathogenic for cobblestone lissencephaly by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001079802.1(FKTN):c.528dupT
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997

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