ClinVar Miner

List of variants in gene TARDBP reported as likely benign for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_007375.4(TARDBP):c.975C>T (p.Ala325=) rs777072801 0.00009
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_007375.4(TARDBP):c.1101C>T (p.Phe367=) rs377531374 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_007375.4(TARDBP):c.714+17C>T rs374054081 0.00005
NM_007375.4(TARDBP):c.87C>T (p.Ser29=) rs201693535 0.00005
NM_007375.4(TARDBP):c.1122T>C (p.Tyr374=) rs147795017 0.00004
NM_007375.4(TARDBP):c.330T>G (p.Gly110=) rs199804130 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_007375.4(TARDBP):c.239-11G>A rs200694980 0.00003
NM_007375.4(TARDBP):c.403-5T>C rs372872536 0.00003
NM_007375.4(TARDBP):c.900A>G (p.Gly300=) rs146402671 0.00003
NM_007375.4(TARDBP):c.1056T>C (p.Asn352=) rs561479675 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_007375.4(TARDBP):c.162C>T (p.Val54=) rs751073315 0.00001
NM_007375.4(TARDBP):c.402+19A>G rs200818944 0.00001
NM_007375.4(TARDBP):c.411A>G (p.Lys137=) rs766028449 0.00001
NM_007375.4(TARDBP):c.543+9G>A rs370342366 0.00001
NM_007375.4(TARDBP):c.622C>A (p.Arg208=) rs1643615862 0.00001
NM_007375.4(TARDBP):c.111G>A (p.Gly37=) rs1553158651
NM_007375.4(TARDBP):c.114G>A (p.Ala38=)
NM_007375.4(TARDBP):c.1173A>G (p.Ala391=)
NM_007375.4(TARDBP):c.1179G>A (p.Ser393=)
NM_007375.4(TARDBP):c.12T>C (p.Tyr4=)
NM_007375.4(TARDBP):c.189C>T (p.Ala63=) rs1399738284
NM_007375.4(TARDBP):c.238+16G>T
NM_007375.4(TARDBP):c.239-12C>T
NM_007375.4(TARDBP):c.273A>G (p.Ser91=)
NM_007375.4(TARDBP):c.312C>T (p.Ser104=)
NM_007375.4(TARDBP):c.360G>A (p.Leu120=)
NM_007375.4(TARDBP):c.403-14A>G
NM_007375.4(TARDBP):c.465T>C (p.Tyr155=)
NM_007375.4(TARDBP):c.495A>G (p.Arg165=)
NM_007375.4(TARDBP):c.543+15G>A rs749471636
NM_007375.4(TARDBP):c.543+16C>G
NM_007375.4(TARDBP):c.543+20G>T
NM_007375.4(TARDBP):c.544-15T>C
NM_007375.4(TARDBP):c.544-6G>C rs2100852266
NM_007375.4(TARDBP):c.609T>G (p.Thr203=)
NM_007375.4(TARDBP):c.636T>G (p.Ser212=)
NM_007375.4(TARDBP):c.642C>T (p.Tyr214=)
NM_007375.4(TARDBP):c.699A>G (p.Thr233=) rs745343269
NM_007375.4(TARDBP):c.714+18G>A
NM_007375.4(TARDBP):c.715-11A>G
NM_007375.4(TARDBP):c.715-18A>G
NM_007375.4(TARDBP):c.774C>G (p.Ser258=)
NM_007375.4(TARDBP):c.780C>T (p.Ala260=)
NM_007375.4(TARDBP):c.909A>G (p.Gln303=)
NM_007375.4(TARDBP):c.930G>A (p.Gly310=)
NM_007375.4(TARDBP):c.939T>C (p.Phe313=)
NM_007375.4(TARDBP):c.990A>G (p.Leu330=)

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