List of variants reported as likely pathogenic for Myopathy, myofibrillar, 9, with early respiratory failure

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	rs1064793560	0.00001
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_001267550.2(TTN):c.2224del (p.Ser742fs)	rs2093148818
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)	rs1560689563
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	rs756433029
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)	rs1247353236
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)	rs2154358498
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	rs878854428
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)	rs1559187287
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)	rs869320739

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