List of variants in gene TNXB reported as likely pathogenic for Ehlers-Danlos syndrome

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val)	rs201397168	0.00056
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)	rs749890642	0.00002
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter)	rs201184519	0.00001
NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter)	rs748223125
NM_001365276.2(TNXB):c.31A>T (p.Ser11Cys)
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)	rs2127254498
NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys)
NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)	rs2151900685
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys)	rs759929653
NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val)	rs2151892576
NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs)	rs2151892569
NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter)	rs2151892548
NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs)	rs773500008

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