ClinVar Miner

List of variants in gene CYLD studied for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser) rs764097337 0.00004
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_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.2155A>G (p.Met719Val) rs1971438573
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.2806C>T (p.Arg936Ter) rs121908390
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)

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