ClinVar Miner

List of variants reported as not provided for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) rs121909192 0.00208
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_007375.4(TARDBP):c.*83T>C rs80356744 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) rs149713669 0.00002
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) rs63751048 0.00001
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter) rs763615051 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter) rs1445458188
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) rs2034878363
NM_001376.5(DYNC1H1):c.11989C>T (p.Arg3997Trp) rs1399236395
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_001376.5(DYNC1H1):c.3504del (p.Phe1169fs) rs2141281091
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala) rs2048178354
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_002047.2(GARS1):c.-45C>G rs903029869
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) rs1200414397
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter) rs80356737
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly) rs797044595
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>A rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977

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