List of variants reported as pathogenic for Hereditary spastic paraplegia 31 by Paris Brain Institute, Inserm - ICM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NC_000002.11:g.(86444234_86459747)_(86459926_86479079)del
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)del
NC_000002.11:g.(?_86444222)_(86565200_?)del
NC_000002.11:g.(?_86565200)_(86481816_86479194)del
NM_001371279.1(REEP1):c.105+471_105+472insA	rs2104392639
NM_001371279.1(REEP1):c.106-4A>G	rs1677011138
NM_001371279.1(REEP1):c.166G>C (p.Asp56His)	rs1060503493
NM_001371279.1(REEP1):c.182+5G>C	rs766166355
NM_001371279.1(REEP1):c.249del (p.Ser84fs)	rs2104244515
NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)	rs2104244362
NM_001371279.1(REEP1):c.299_303del (p.Glu100fs)	rs2104243887
NM_001371279.1(REEP1):c.418-1G>A	rs2104054912
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)	rs1060503496
NM_001371279.1(REEP1):c.74dup (p.Ala26fs)	rs2104394867

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