ClinVar Miner

List of variants in gene L1CAM reported as likely pathogenic for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs) rs2064782292
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His) rs2148495027
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019

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