ClinVar Miner

List of variants in gene TARDBP reported as likely pathogenic for Amyotrophic lateral sclerosis type 10

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Total variants: 11
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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.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.931A>G (p.Met311Val) rs80356725 0.00001
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu) rs1643659556
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768

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