List of variants in gene combination LOC126806430, TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)	rs189127014	0.00053
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)	rs72648947	0.00046
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)	rs369544339	0.00010
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His)	rs376012117	0.00004
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile)	rs367685188	0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)	rs72648948	0.00004
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser)	rs375003845	0.00002
NM_001267550.2(TTN):c.18589+5G>A	rs763752372	0.00002
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His)	rs886246785	0.00002
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val)	rs368897297	0.00001
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val)	rs758380777	0.00001
NM_001267550.2(TTN):c.18589+4C>T	rs1449021840	0.00001
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp)	rs750368911	0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr)	rs1060500581	0.00001
NM_001267550.2(TTN):c.18307+2T>C	rs2154307882
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg)	rs1553921829
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys)	rs1280788914
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter)	rs2154307591
NM_001267550.2(TTN):c.18411_18412insSVAelement
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His)	rs746345160
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala)	rs1553920950
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter)	rs2079975361
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg)	rs1553920476
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val)	rs1060500522

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