List of variants in gene TSEN54 reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.1138G>T (p.Glu380Ter)	rs587784475
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)	rs587784476
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)	rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)	rs797046055
NM_207346.3(TSEN54):c.575_576del (p.His192fs)	rs587784479
NM_207346.3(TSEN54):c.823del (p.Val275fs)	rs797046057

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