List of variants reported as uncertain significance for Tibial muscular dystrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)	rs142304137	0.00029
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)	rs376037252	0.00005
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)	rs148430495	0.00004
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser)	rs1057518931
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser)	rs758704167
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)	rs2080494323
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs)	rs2080219754
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr)	rs2076871733
NM_001267550.2(TTN):c.27328+19C>G	rs974890499
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)	rs766638714
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)	rs55914517
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys)	rs1221486073
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)	rs190282707
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)	rs773279450
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)	rs1693772565
NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys)	rs2084167410

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