ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis by Baylor Genetics

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met) rs374970657 0.00007
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser) rs764097337 0.00004
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) rs377341108 0.00003
NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile) rs587778223 0.00002
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) rs772254840 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu) rs749011406 0.00001
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter) rs368276916 0.00001
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) rs779161014 0.00001
NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=) rs146240471 0.00001
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn)
NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val)
NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg)
NM_001378743.1(CYLD):c.1111del (p.Ser371fs)
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser)
NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu)
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg) rs200759332
NM_001378743.1(CYLD):c.1190G>A (p.Arg397His)
NM_001378743.1(CYLD):c.1249C>T (p.His417Tyr)
NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu)
NM_001378743.1(CYLD):c.1289A>G (p.Asn430Ser)
NM_001378743.1(CYLD):c.1331C>G (p.Ser444Cys)
NM_001378743.1(CYLD):c.1402C>T (p.His468Tyr)
NM_001378743.1(CYLD):c.1433T>C (p.Val478Ala)
NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys)
NM_001378743.1(CYLD):c.1763T>C (p.Ile588Thr)
NM_001378743.1(CYLD):c.1827-3C>A
NM_001378743.1(CYLD):c.208A>G (p.Ile70Val)
NM_001378743.1(CYLD):c.2172A>C (p.Lys724Asn)
NM_001378743.1(CYLD):c.241G>T (p.Val81Phe)
NM_001378743.1(CYLD):c.2434A>G (p.Lys812Glu)
NM_001378743.1(CYLD):c.2462A>G (p.Asn821Ser)
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile) rs775394735
NM_001378743.1(CYLD):c.2578G>C (p.Glu860Gln)
NM_001378743.1(CYLD):c.2644G>A (p.Asp882Asn)
NM_001378743.1(CYLD):c.2650G>T (p.Ala884Ser)
NM_001378743.1(CYLD):c.274A>G (p.Ile92Val)
NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn)
NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln)
NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys)
NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys)
NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp)
NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala)
NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro)
NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser)
NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly)
NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr)
NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro)
NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser)
NM_001378743.1(CYLD):c.694A>G (p.Ile232Val)
NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe)
NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala)
NM_001378743.1(CYLD):c.761T>G (p.Val254Gly)
NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn)
NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg)
NM_001761.3(CCNF):c.205C>T (p.His69Tyr)
NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) rs780136067
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln) rs1219922877
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg) rs2040916858
NM_015046.7(SETX):c.5054C>G (p.Ser1685Cys) rs1846780010
NM_020919.4(ALS2):c.4064del (p.Gln1355fs)
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs) rs746971952
NM_025137.4(SPG11):c.3989A>G (p.Gln1330Arg) rs2083094391
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506

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