List of variants in gene STAC3 reported as pathogenic for Bailey-Bloch congenital myopathy

Minimum submission review status:		Collection method:
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: 12

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HGVS	dbSNP	gnomAD frequency
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	rs371720347	0.00022
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	rs1202215410	0.00001
NC_000012.11:g.(?_57641889)_(57642001_?)del
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)
NM_145064.3(STAC3):c.383_399del (p.His128fs)	rs1555194630
NM_145064.3(STAC3):c.432+4A>T	rs751033943
NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)
NM_145064.3(STAC3):c.694del (p.Ala232fs)	rs774555559
NM_145064.3(STAC3):c.763_766del (p.Leu255fs)	rs773050511
NM_145064.3(STAC3):c.816_817del (p.Lys273fs)
NM_145064.3(STAC3):c.997-1G>T	rs779483367

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