ClinVar Miner

List of variants studied for MASA syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) rs879253714
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) rs28933683

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