List of variants in gene L1CAM reported as likely pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.1124-6_1124-3dup	rs782713149	0.00007
NM_001278116.2(L1CAM):c.1103T>A (p.Ile368Asn)	rs2148497631
NM_001278116.2(L1CAM):c.1120G>T (p.Glu374Ter)	rs202070860
NM_001278116.2(L1CAM):c.1166del (p.Leu389fs)
NM_001278116.2(L1CAM):c.1267+1G>A	rs1557092247
NM_001278116.2(L1CAM):c.1429del (p.Tyr477fs)	rs2148496739
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.1828+5G>A	rs1064793164
NM_001278116.2(L1CAM):c.1828+5G>T	rs1064793164
NM_001278116.2(L1CAM):c.1939+5G>C	rs879253716
NM_001278116.2(L1CAM):c.2205G>A (p.Trp735Ter)	rs1131691594
NM_001278116.2(L1CAM):c.2431+5G>A	rs1557090943
NM_001278116.2(L1CAM):c.2603_2604del (p.Lys868fs)	rs2148494123
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu)	rs2064682269
NM_001278116.2(L1CAM):c.3774G>C (p.Ter1258Tyr)	rs782235888
NM_001278116.2(L1CAM):c.400+5G>A	rs1569544908
NM_001278116.2(L1CAM):c.631G>A (p.Ala211Thr)	rs202000092
NM_001278116.2(L1CAM):c.785T>G (p.Leu262Arg)	rs1557092743
NM_001278116.2(L1CAM):c.806+5G>C
NM_001278116.2(L1CAM):c.826T>A (p.Trp276Arg)	rs1131691900
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)	rs797044787

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