List of variants in gene SPG11 reported as pathogenic by Mendelics

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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_025137.4(SPG11):c.2013_2026dup (p.Lys676fs)	rs1595898078
NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter)	rs1595898030
NM_025137.4(SPG11):c.2444+1G>C	rs312262743
NM_025137.4(SPG11):c.334G>T (p.Glu112Ter)	rs1595940058
NM_025137.4(SPG11):c.4434+1G>A	rs1567148391
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)	rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)	rs863225440
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)	rs863225439
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)	rs312262784

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