ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 31 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_85766411)_(86564633_?)del
NC_000002.11:g.(?_86444152)_(86564643_?)del
NC_000002.11:g.(?_86479060)_(86481957_?)del
NC_000002.11:g.(?_86509273)_(86564633_?)del
NC_000002.12:g.(?_86251947)_(86254824_?)del
NC_000002.12:g.(?_86263945)_(86264061_?)del
NC_000002.12:g.(?_86337469)_(86337520_?)del
NM_001371279.1(REEP1):c.104_105del (p.Tyr35fs)
NM_001371279.1(REEP1):c.106-1G>A
NM_001371279.1(REEP1):c.106-2A>T rs1677010564
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter) rs1060503494
NM_001371279.1(REEP1):c.128_138dup (p.Phe48fs)
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter) rs1558898568
NM_001371279.1(REEP1):c.183-2A>G rs387906264
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter) rs1676463508
NM_001371279.1(REEP1):c.208dup (p.Ile70fs)
NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter) rs2104244665
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr) rs1681107508
NM_001371279.1(REEP1):c.304-1G>C
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter) rs121918263
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter) rs138656911
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter) rs786204081
NM_001371279.1(REEP1):c.417+1G>A rs2104223296
NM_001371279.1(REEP1):c.417+1G>C rs2104223296
NM_001371279.1(REEP1):c.417+1del
NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter) rs2104054009
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371279.1(REEP1):c.495del (p.Ala166fs) rs1558875298
NM_001371279.1(REEP1):c.512del (p.Pro171fs) rs387906263
NM_001371279.1(REEP1):c.57del (p.Ala20fs)
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)

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