ClinVar Miner

List of variants reported as not provided for Bailey-Bloch congenital myopathy by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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.432+4A>T rs751033943
NM_145064.3(STAC3):c.763_766del (p.Leu255fs) rs773050511
NM_145064.3(STAC3):c.997-1G>T rs779483367

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