List of variants in gene ERLIN2 reported as uncertain significance 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)	rs200292614	0.00008
NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)	rs368986092	0.00001
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)	rs763958615	0.00001
NM_007175.8(ERLIN2):c.188A>C (p.Gln63Pro)	rs2129653824
NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg)	rs1802974214
NM_007175.8(ERLIN2):c.406G>A (p.Val136Ile)	rs1338086200
NM_007175.8(ERLIN2):c.499-11TC[3]	rs2129711294
NM_007175.8(ERLIN2):c.538C>T (p.Arg180Cys)
NM_007175.8(ERLIN2):c.869C>T (p.Ala290Val)	rs759417913

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