ClinVar Miner

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

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_007375.4(TARDBP):c.-13+95C>T rs11121681 0.13481
NM_007375.3(TARDBP):c.-122G>A rs11121679 0.13475
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_007375.4(TARDBP):c.24C>T (p.Thr8=) rs72870030 0.00112
NM_007375.4(TARDBP):c.544-17C>T rs117557248 0.00085
NM_007375.4(TARDBP):c.*343G>A rs555353123 0.00073
NM_007375.4(TARDBP):c.*1081C>T rs184303021 0.00053
NM_007375.4(TARDBP):c.*2740G>A rs566658679 0.00024
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_007375.4(TARDBP):c.*73G>C rs185638796 0.00003
NM_007375.4(TARDBP):c.238+9C>T rs376560308 0.00002
NM_007375.4(TARDBP):c.238+21dup
NM_007375.4(TARDBP):c.239-18T>C
NM_007375.4(TARDBP):c.714+69dup rs143130606
NM_007375.4(TARDBP):c.792C>T (p.His264=)

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