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

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)	rs587780494	0.00003
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)	rs372277017	0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	rs770038577	0.00001
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	rs760768093
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)	rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	rs281864927
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)	rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	rs281864933
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)	rs2067087661
NM_001267550.2(TTN):c.47961del (p.Gly15988fs)	rs1553707780
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)	rs751502842
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)	rs587780490
NM_001267550.2(TTN):c.65863+1G>A	rs2154178615

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