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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)	rs137852524
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter)	rs1557091773
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn)	rs137852519
NM_001278116.2(L1CAM):c.2575_2576del (p.Arg859fs)
NM_001278116.2(L1CAM):c.3170_3174del
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter)	rs2148493243
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs)	rs879253714
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	rs137852522
NM_001278116.2(L1CAM):c.421_425dup (p.Val143fs)
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser)	rs137852523
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln)	rs28933683

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