ClinVar Miner

List of variants studied for L1 syndrome by Hehr Laboratory, Center for Human Genetics Regensburg

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) rs1569544754

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