ClinVar Miner

List of variants reported as likely pathogenic for X-linked hydrocephalus syndrome

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Total variants: 4
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NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)

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