List of variants reported as pathogenic for hereditary spastic paraplegia 11 by GeneReviews

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	rs312262728	0.00001
NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)	rs312262764
NM_025137.3:c.5898+5493_6509-491del
NM_025137.3:c.5987_5990dupCTCT
NM_025137.3:c.6754+4insTG
NM_025137.4(SPG11):c.1735+3_1735+6del	rs312262734
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)	rs312262735
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)	rs312262744
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)	rs587777921
NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs)	rs312262765
NM_025137.4(SPG11):c.5867-3237_6478-451del
NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs)	rs312262777
NM_025137.4(SPG11):c.7000-3_7000-2insAGG	rs312262787
g.96677_99386del2710

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