ClinVar Miner

List of variants reported as likely pathogenic for cobblestone lissencephaly by Hehr Laboratory,Center for Human Genetics - University of Regensburg

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_004737.6(LARGE1):c.1033_1034dup (p.Asn345fs) rs1569112355
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) rs886041004

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