ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis by UM ALS/MND Lab, University Of Malta

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr) rs36106901 0.04752
NM_021076.4(NEFH):c.2009T>A (p.Val670Glu) rs190692435 0.03078
NM_001080421.3(UNC13A):c.4197+7C>T rs148883310 0.01751
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala) rs61754285 0.01266
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe) rs181906086 0.01248
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser) rs41311143 0.00947
NM_006058.5(TNIP1):c.437C>T (p.Ala146Val) rs2233289 0.00813
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr) rs61754480 0.00332
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_015077.4(SARM1):c.1501T>C (p.Tyr501His) rs144613221 0.00178
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) rs200706696 0.00057
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys) rs145061116 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_003315.4(DNAJC7):c.170T>C (p.Met57Thr) rs371236469 0.00006
NM_001199397.3(NEK1):c.107A>G (p.Asn36Ser) rs1404362599 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_015046.7(SETX):c.2425A>G (p.Ile809Val) rs906452681 0.00002
NM_001917.5(DAO):c.250G>A (p.Ala84Thr) rs781658657 0.00001
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) rs778679611 0.00001
NM_004928.3(CFAP410):c.642+22G>A rs746114248 0.00001
NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr) rs373685875 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter) rs759408917 0.00001
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys) rs758046989 0.00001
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe) rs1564162129
NM_001372574.1(ATXN2):c.18GCA[28] (p.Gln14_Gln28dup) rs193922927
NM_001372574.1(ATXN2):c.2470A>C (p.Ile824Leu) rs1338140819
NM_001393704.1(MOBP):c.514C>A (p.Arg172Ser) rs1188260744
NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe) rs1328116832
NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg) rs371332509
NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn) rs2061187258
NM_007204.5(DDX20):c.2237T>C (p.Leu746Ser) rs1663787736
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_020919.4(ALS2):c.142C>G (p.Leu48Val)
NM_020919.4(ALS2):c.3624+1G>A rs2105998730
NM_144599.5(NIPA1):c.24GGC[21] (p.Ala4_Ala16dup) rs531550505

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