List of variants in gene LOC126806431, TTN studied for Tibial muscular dystrophy

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

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)	rs16866477	0.00593
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)	rs72648942	0.00471
NM_001267550.2(TTN):c.17183-9T>C	rs141687561	0.00133
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)	rs200692495	0.00107
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)	rs370036981	0.00061
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)	rs72648943	0.00039
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)	rs185962498	0.00028
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)	rs370889765	0.00009
NM_001267550.2(TTN):c.17183-7C>T	rs371785683	0.00009
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)	rs727504441	0.00003
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)	rs760724229	0.00002
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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