List of variants in gene LOC126806433, TTN studied for Tibial muscular dystrophy

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)	rs4894048	0.05739
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)	rs75031300	0.00287
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)	rs772093035	0.00013
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)	rs761409144	0.00006
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)	rs776478343	0.00004
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)	rs777101912	0.00001
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe)	rs879004898
NM_001267550.2(TTN):c.7368G>C (p.Val2456=)	rs886055301
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala)	rs886055300
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile)	rs1228257559

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