List of variants in gene combination LOC126806431, TTN reported as uncertain significance 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)	rs185962498	0.00028
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)	rs727504441	0.00003
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)	rs928844023	0.00001
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)	rs2080494323
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=)	rs2080475152
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg)	rs572678771

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