List of variants reported as pathogenic for Tibial muscular dystrophy by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)	rs281864932
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)	rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)	rs281864933

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