List of variants in gene combination LOC126806425, TTN studied for TTN-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)	rs72646808	0.00118
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	rs201213901	0.00115
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)	rs200387466	0.00074
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)	rs202200861	0.00028
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)	rs371031259	0.00025
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)	rs373316165	0.00007
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	rs397517612	0.00001
NM_001267550.2(TTN):c.53390C>T (p.Thr17797Ile)	rs727503610	0.00001
NM_001267550.2(TTN):c.52524del (p.Lys17508fs)
NM_001267550.2(TTN):c.52531G>A (p.Val17511Ile)	rs1446269783
NM_001267550.2(TTN):c.52778dup (p.Ala17594fs)
NM_001267550.2(TTN):c.53011G>T (p.Ala17671Ser)
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)	rs886042743
NM_001267550.2(TTN):c.53259A>T (p.Lys17753Asn)
NM_001267550.2(TTN):c.53287+10G>A
NM_001267550.2(TTN):c.53287+7A>G
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter)	rs794729273

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