ClinVar Miner

List of variants reported as likely pathogenic for MASA syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp) rs2064747653
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs) rs2148494128
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs) rs2064809181
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly) rs201204893
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526

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