List of variants in gene ERLIN2 reported as pathogenic for 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)	rs763958615	0.00001
NM_007175.8(ERLIN2):c.179dup (p.Ser61fs)
NM_007175.8(ERLIN2):c.303T>A (p.Tyr101Ter)	rs1052410160
NM_007175.8(ERLIN2):c.303del (p.Val100_Tyr101insTer)
NM_007175.8(ERLIN2):c.367G>T (p.Glu123Ter)	rs1393816662
NM_007175.8(ERLIN2):c.46del (p.Cys16fs)	rs1585896928
NM_007175.8(ERLIN2):c.853A>T (p.Lys285Ter)	rs1803294545

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