ClinVar Miner

List of variants reported for Hereditary spastic paraplegia by Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_002361.4(MAG):c.452C>T (p.Ala151Val) rs144553163 0.00387
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_138368.5(AP5B1):c.1201C>T (p.Leu401Phe) rs201041158 0.00319
NM_020839.4(WDR48):c.280T>G (p.Ser94Ala) rs148407227 0.00279
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269 0.00157
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792 0.00115
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn) rs150211860 0.00068
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00057
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_004990.4(MARS1):c.-18C>T rs201535531 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser) rs67967266 0.00035
NM_002361.4(MAG):c.1117A>C (p.Ser373Arg) rs142375870 0.00022
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) rs367867460 0.00017
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) rs146628704 0.00014
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys) rs145463842 0.00010
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_001122955.4(BSCL2):c.895G>A (p.Ala299Thr) rs141377075 0.00007
NM_001012301.4(ARSI):c.1456C>T (p.Arg486Cys) rs139095592 0.00006
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) rs374249741 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) rs750211507 0.00004
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012 0.00003
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys) rs552008894 0.00002
NM_013280.5(FLRT1):c.1591G>A (p.Asp531Asn) rs752014510 0.00002
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_002361.4(MAG):c.1646C>T (p.Ser549Leu) rs767886169 0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_004722.4(AP4M1):c.607-2A>G rs755533568 0.00001
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) rs763958615 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_015046.7(SETX):c.4711G>A (p.Val1571Met) rs745970760 0.00001
NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln) rs770927853 0.00001
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs) rs1555394376 0.00001
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) rs143058194
NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg) rs1367809298
NM_001122955.4(BSCL2):c.809G>T (p.Arg270Leu) rs763884653
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001253852.3(AP4B1):c.1114+29G>C rs1391634567
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro) rs1266102026
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_004820.5(CYP7B1):c.914dup (p.Met305fs) rs1554524697
NM_004984.4(KIF5A):c.572G>A (p.Arg191His) rs1488871976
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu) rs1555177824
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004984.4(KIF5A):c.868G>C (p.Asp290His) rs1555177831
NM_006517.5(SLC16A2):c.377C>A (p.Ser126Tyr) rs1555979601
NM_014363.5:c.[1640C>T;1634G>T]
NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr) rs376671338
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) rs554060393
NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln) rs1553316816
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del
NM_025137.4(SPG11):c.2486T>G (p.Val829Gly) rs1555455561
NM_138368.5(AP5B1):c.1791G>C (p.Gln597His) rs375914619
NM_138368.5(AP5B1):c.2089T>C (p.Phe697Leu) rs1555023306
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490

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