List of variants in gene TTN reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	rs72646846	0.00006
NM_001267550.2(TTN):c.86821+2T>A	rs397517735	0.00005
NM_001267550.2(TTN):c.49648+2del	rs727504851	0.00003
NM_001267550.2(TTN):c.107377+1G>A	rs112188483	0.00002
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	rs1009131948	0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)	rs794729284	0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	rs753334568	0.00001
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	rs534484592
NM_001267550.2(TTN):c.106629del (p.Ala35544fs)	rs869312069
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)	rs397517689
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)	rs794729285
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)	rs869178171

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