ClinVar Miner

List of variants studied for complex hereditary spastic paraplegia by Baylor Genetics

Included ClinVar conditions (73):
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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) rs113882528 0.00176
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) rs113584704 0.00175
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163 0.00140
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu) rs202094672 0.00127
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792 0.00115
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln) rs150230201 0.00113
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp) rs142883889 0.00081
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly) rs149670131 0.00051
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) rs144849839 0.00038
NM_015346.4(ZFYVE26):c.6649C>G (p.Leu2217Val) rs149104493 0.00036
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp) rs201318945 0.00026
NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr) rs145802357 0.00024
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) rs185657767 0.00019
NM_020944.3(GBA2):c.659G>A (p.Gly220Asp) rs145436860 0.00015
NM_031448.6(C19orf12):c.121G>A (p.Val41Ile) rs148797643 0.00014
NM_006612.6(KIF1C):c.701C>T (p.Thr234Met) rs201655443 0.00013
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00011
NM_014844.5(TECPR2):c.818G>A (p.Arg273His) rs144069125 0.00011
NM_014844.5(TECPR2):c.2900C>T (p.Pro967Leu) rs140434256 0.00010
NM_020738.4(KIDINS220):c.207+3A>G rs374940372 0.00010
NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile) rs144984608 0.00009
NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr) rs752855724 0.00009
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_015346.4(ZFYVE26):c.4974+5G>A rs757204134 0.00008
NM_015346.4(ZFYVE26):c.7358G>C (p.Arg2453Thr) rs767313762 0.00008
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547 0.00006
NM_015214.3(DDHD2):c.1090C>G (p.Gln364Glu) rs201156715 0.00006
NM_015346.4(ZFYVE26):c.3404A>G (p.Gln1135Arg) rs773669036 0.00006
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser) rs143885818 0.00006
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_133443.4(GPT2):c.371G>C (p.Ser124Thr) rs776650490 0.00005
NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu) rs758481758 0.00005
NM_005186.4(CAPN1):c.929+2T>A rs1356340954 0.00004
NM_014844.5(TECPR2):c.3979C>T (p.Arg1327Cys) rs763261549 0.00004
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln) rs368192956 0.00004
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) rs199961048 0.00004
NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys) rs201352197 0.00003
NM_015346.4(ZFYVE26):c.3820A>G (p.Ser1274Gly) rs1348928561 0.00003
NM_015346.4(ZFYVE26):c.397G>A (p.Gly133Ser) rs199505106 0.00003
NM_015346.4(ZFYVE26):c.5494C>T (p.Arg1832Cys) rs763540632 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_001318734.2(KLC2):c.1526G>A (p.Arg509Gln) rs749350069 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu) rs778486956 0.00001
NM_001368809.2(AMPD2):c.1103C>T (p.Ser368Leu) rs1340521500 0.00001
NM_001776.6(ENTPD1):c.*7C>T rs754891950 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_014844.5(TECPR2):c.1204G>A (p.Val402Met) rs201302142 0.00001
NM_015087.5(SPART):c.1399G>A (p.Val467Met) rs763966969 0.00001
NM_015214.3(DDHD2):c.1478C>G (p.Pro493Arg) rs753206667 0.00001
NM_015214.3(DDHD2):c.420C>A (p.Tyr140Ter) rs939799061 0.00001
NM_015346.4(ZFYVE26):c.2777C>G (p.Ser926Cys) rs769154501 0.00001
NM_015346.4(ZFYVE26):c.2980A>G (p.Thr994Ala) rs1199967285 0.00001
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter) rs370828455 0.00001
NM_015346.4(ZFYVE26):c.7411A>G (p.Asn2471Asp) rs868606135 0.00001
NM_015375.3(DSTYK):c.609T>G (p.His203Gln) rs748982270 0.00001
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met) rs771589853 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_133443.4(GPT2):c.478C>T (p.Arg160Cys) rs749413260 0.00001
NM_001010867.4(IBA57):c.232C>G (p.Leu78Val) rs1022779300
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly) rs539907686
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) rs2064751060
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr) rs2064704352
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001351169.2(NT5C2):c.539+1G>T rs1457224574
NM_001368809.2(AMPD2):c.2009A>G (p.Tyr670Cys) rs1651099625
NM_001478.5(B4GALNT1):c.1400G>A (p.Gly467Glu) rs1555185818
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001478.5(B4GALNT1):c.532-2_532-1delinsTC
NM_002361.4(MAG):c.541G>T (p.Gly181Trp) rs2066431561
NM_002361.4(MAG):c.795C>A (p.Ser265Arg) rs2066438141
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_006070.6(TFG):c.320G>C (p.Arg107Pro) rs373307369
NM_006612.6(KIF1C):c.3236C>A (p.Pro1079His) rs1975155981
NM_007175.8(ERLIN2):c.356A>G (p.Lys119Arg) rs1802974214
NM_012073.5(CCT5):c.664A>T (p.Thr222Ser) rs1745778826
NM_014844.5(TECPR2):c.3793G>A (p.Ala1265Thr) rs140840591
NM_015087.5(SPART):c.1294del (p.Ser432fs) rs2137335988
NM_015346.4(ZFYVE26):c.1564C>T (p.Gln522Ter) rs2040089822
NM_015346.4(ZFYVE26):c.886+1G>C rs752618765
NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter) rs77626160
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val) rs1671352434
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter) rs1664085645
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val) rs1675445207
NM_020771.4(HACE1):c.1351C>T (p.Arg451Trp) rs1455900509
NM_020944.3(GBA2):c.134G>C (p.Cys45Ser) rs776346547
NM_021160.3(ABHD16A):c.260A>G (p.Tyr87Cys)
NM_022089.4(ATP13A2):c.1045_1046del (p.Ser349fs)
NM_022089.4(ATP13A2):c.3151_3152del (p.Phe1051fs) rs2076751251
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) rs1935729656
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) rs1932362121
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) rs144933467
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
NM_133443.4(GPT2):c.589A>G (p.Ile197Val) rs748267502
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508

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