List of variants in gene L1CAM reported as uncertain significance for hereditary spastic paraplegia

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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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)	rs201081454	0.00009
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)	rs149737236	0.00009
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)	rs201978087	0.00003
NM_001278116.2(L1CAM):c.401-7C>G	rs1424993007	0.00002
NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp)	rs782361186	0.00001
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)	rs149420127	0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)	rs1557090130	0.00001
NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)	rs782180684	0.00001
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His)	rs1369743518	0.00001
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys)	rs2064751060
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys)	rs994675918
NM_001278116.2(L1CAM):c.1891G>T (p.Val631Leu)
NM_001278116.2(L1CAM):c.198-8G>A	rs201664558
NM_001278116.2(L1CAM):c.2209-9C>T	rs201704250
NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg)	rs2148495013
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.2988C>T (p.Thr996=)	rs200863731
NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)
NM_001278116.2(L1CAM):c.3531-1G>A	rs2148492410
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001278116.2(L1CAM):c.3665A>G (p.Asp1222Gly)
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His)	rs2148491854
NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp)	rs1175408854
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met)	rs2148497835

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