List of variants in gene TTN reported as likely pathogenic for Tibial muscular dystrophy

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	rs1064793560	0.00001
NM_001267550.2(TTN):c.32471-1G>A	rs371725574	0.00001
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)	rs1689596670
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)	rs281864928
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)	rs2050860445
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	rs543860009
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)	rs1312613088
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	rs878854428
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)	rs587780495

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