ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia by Invitae

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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_001128126.3(AP4S1):c.138+1G>A rs200033849 0.00004
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001478.5(B4GALNT1):c.383+1G>A rs371013292 0.00001
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr) rs139015012 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_015346.4(ZFYVE26):c.1017+1G>T rs1224762841 0.00001
NM_015346.4(ZFYVE26):c.3020-2A>G rs1470672632 0.00001
NM_015346.4(ZFYVE26):c.5622-2A>G rs1272228031 0.00001
NM_020944.3(GBA2):c.1582+2T>G rs941656065 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NC_000004.11:g.(?_108853015)_(108855427_?)del
NC_000013.11:g.(?_23353775)_(23358491_?)del
NC_000014.8:g.(?_68251766)_(68260966_?)del
NM_001128126.3(AP4S1):c.226-2A>G rs2139067616
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr) rs755820725
NM_001278116.2(L1CAM):c.1380-2A>T
NM_001278116.2(L1CAM):c.1702_1703+14del rs1603275315
NM_001278116.2(L1CAM):c.1703+1G>A rs2148496455
NM_001278116.2(L1CAM):c.1940-1G>A rs2148495739
NM_001278116.2(L1CAM):c.2137+1G>A rs1557091278
NM_001278116.2(L1CAM):c.2547+2T>G
NM_001278116.2(L1CAM):c.3046+1G>C rs1557090220
NM_001278116.2(L1CAM):c.3046+1G>T
NM_001278116.2(L1CAM):c.3167-2A>G
NM_001278116.2(L1CAM):c.401-1G>A rs2064766332
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr) rs1603276234
NM_001278116.2(L1CAM):c.476_524-42delinsGAA
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.806+5G>A rs878853979
NM_001278116.2(L1CAM):c.92-1G>A
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162
NM_001478.5(B4GALNT1):c.532-2A>G rs1885117995
NM_001478.5(B4GALNT1):c.712+1G>A
NM_001478.5(B4GALNT1):c.811+38_903del
NM_004187.5(KDM5C):c.1243-2A>G rs1569274606
NM_004187.5(KDM5C):c.150+1G>A
NM_004187.5(KDM5C):c.1747-2A>T
NM_004187.5(KDM5C):c.1866+1G>A rs2146867849
NM_004187.5(KDM5C):c.1A>G (p.Met1Val) rs1569285562
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.2981+1G>A
NM_004187.5(KDM5C):c.781+1G>A
NM_004820.5(CYP7B1):c.1057+1G>A
NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg) rs1467815062
NM_004820.5(CYP7B1):c.122+1G>C
NM_004820.5(CYP7B1):c.122+1G>T
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.260-1G>A rs1385678413
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
NM_004984.4(KIF5A):c.1905+2_1905+3delinsGC
NM_004984.4(KIF5A):c.2756-2A>G
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) rs1555179087
NM_004984.4(KIF5A):c.3020+1G>T rs1555179091
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) rs1060502523
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)
NM_004984.4(KIF5A):c.611G>T (p.Arg204Leu)
NM_004984.4(KIF5A):c.839G>C (p.Arg280Pro)
NM_004984.4(KIF5A):c.969-1G>C rs1882179247
NM_005619.5(RTN2):c.1380+1G>T rs1968087179
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) rs2147871878
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys) rs1802811311
NM_007175.8(ERLIN2):c.207T>G (p.Asp69Glu)
NM_007175.8(ERLIN2):c.237-2A>G rs751227210
NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)
NM_007347.5(AP4E1):c.420+1G>T
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs) rs1883566609
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr) rs1883537654
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) rs1593121507
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val) rs1883393913
NM_014363.6(SACS):c.171+1_171+18del
NM_014363.6(SACS):c.21-2A>G
NM_014363.6(SACS):c.458-2A>C rs2137743517
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro) rs2137596408
NM_015346.4(ZFYVE26):c.1436-1G>A rs545219731
NM_015346.4(ZFYVE26):c.1639+1G>T
NM_015346.4(ZFYVE26):c.2332+1G>C
NM_015346.4(ZFYVE26):c.2401+2T>C
NM_015346.4(ZFYVE26):c.2553+1G>T
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.2753_2755+5del
NM_015346.4(ZFYVE26):c.2756-1G>A rs2039758874
NM_015346.4(ZFYVE26):c.3139+1G>T rs137907310
NM_015346.4(ZFYVE26):c.3523+2T>C
NM_015346.4(ZFYVE26):c.3524-1G>C rs2140225441
NM_015346.4(ZFYVE26):c.3524-2A>G rs1555397331
NM_015346.4(ZFYVE26):c.4372+1_4372+3del rs1555396965
NM_015346.4(ZFYVE26):c.4674+2T>C
NM_015346.4(ZFYVE26):c.4675-2A>G
NM_015346.4(ZFYVE26):c.4797+2T>G rs2140215645
NM_015346.4(ZFYVE26):c.4798-1G>A rs1555396303
NM_015346.4(ZFYVE26):c.5222-1G>A rs2039307447
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015346.4(ZFYVE26):c.5654-1G>A
NM_015346.4(ZFYVE26):c.5790+1G>A rs1340106074
NM_015346.4(ZFYVE26):c.5791-2A>G
NM_015346.4(ZFYVE26):c.6012-1G>A
NM_015346.4(ZFYVE26):c.6159+1G>A rs896655703
NM_015346.4(ZFYVE26):c.6160-2A>C
NM_015346.4(ZFYVE26):c.6369+1G>A rs1197046699
NM_015346.4(ZFYVE26):c.6786+1G>T
NM_015346.4(ZFYVE26):c.6987-1G>A rs1555393393
NM_015346.4(ZFYVE26):c.7188+1G>A rs1555393338
NM_015346.4(ZFYVE26):c.7188+1G>T rs1555393338
NM_015346.4(ZFYVE26):c.886+1G>T rs752618765
NM_015346.4(ZFYVE26):c.887-1G>C
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter) rs1553262438
NM_020435.4(GJC2):c.85_86dup (p.Val30fs) rs1558119445
NM_020944.3(GBA2):c.1129+1G>C rs2131972800
NM_020944.3(GBA2):c.2636G>A (p.Arg879Gln) rs1588001500
NM_020944.3(GBA2):c.515G>T (p.Arg172Leu) rs200268523
NM_024306.5(FA2H):c.340_363+8del rs1597556143
NM_024306.5(FA2H):c.506+1G>C rs753097023
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln) rs762873672
NM_183075.3(CYP2U1):c.946G>C (p.Asp316His) rs766970458

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