ClinVar Miner

List of variants reported as pathogenic for FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu) rs267607102

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