List of variants in gene TSEN2 reported as pathogenic for bulbospinal muscular atrophy

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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_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)	rs376815626	0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00001
NM_025265.4(TSEN2):c.23C>A (p.Ala8Asp)
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter)	rs730880294
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)	rs2054534882
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg)	rs886037739
NM_025265.4(TSEN2):c.960+1_960+5del	rs886037738

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