List of variants in gene combination LOC129935182, TTN reported as likely pathogenic for hereditary skeletal muscle disorder

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)	rs1394131775	0.00001
NM_001267550.2(TTN):c.106009_106010del (p.Ala35338fs)
NM_001267550.2(TTN):c.106015del (p.Asp35339fs)	rs1558988204
NM_001267550.2(TTN):c.106019del (p.Gly35340fs)	rs727504482
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	rs1250336644
NM_001267550.2(TTN):c.106117C>T (p.Gln35373Ter)	rs778126842
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
NM_001267550.2(TTN):c.106181_106185del (p.Lys35394fs)
NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)

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