List of variants in gene TSEN54 reported as likely pathogenic for not provided

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)	rs143604970	0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)	rs151332020	0.00003
NM_207346.3(TSEN54):c.370-2A>G	rs762922379	0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)	rs774157225	0.00002
NM_207346.3(TSEN54):c.1220C>T (p.Pro407Leu)	rs958213919
NM_207346.3(TSEN54):c.1252+1G>A
NM_207346.3(TSEN54):c.1253-4_1263del
NM_207346.3(TSEN54):c.286-1G>A
NM_207346.3(TSEN54):c.286-2_286-1del
NM_207346.3(TSEN54):c.521+1G>A
NM_207346.3(TSEN54):c.521G>A (p.Ser174Asn)	rs1057517911
NM_207346.3(TSEN54):c.547C>T (p.Gln183Ter)	rs1555644470
NM_207346.3(TSEN54):c.623+69_886del
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)

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