ClinVar Miner

List of variants reported as uncertain significance for L1 syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991 0.00001
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518 0.00001
NM_001940.4(ATN1):c.2425C>G (p.Gln809Glu) rs1555144104 0.00001
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) rs2064751060
NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser)
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) rs1569544754
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr) rs2064704352
NM_001278116.2(L1CAM):c.3531-1G>A rs2148492410
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser) rs2064673421
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) rs2148491854
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) rs2148498765
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_006086.4(TUBB3):c.33G>C (p.Gln11His) rs2144399284

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