List of variants in gene TSEN54 reported as pathogenic for anterior horn disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)	rs774157225	0.00002
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)	rs762142684	0.00001
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)	rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)	rs797046055
NM_207346.3(TSEN54):c.823del (p.Val275fs)	rs797046057
NM_207346.3(TSEN54):c.940del (p.Leu314fs)	rs1012275384

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