ClinVar Miner

List of variants reported as benign for Bailey-Bloch congenital myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_145064.3(STAC3):c.1086G>A (p.Glu362=) rs61739642 0.01278
NM_145064.3(STAC3):c.996+17A>T rs150268069 0.00819
NM_145064.3(STAC3):c.570G>A (p.Lys190=) rs76667525 0.00762
NM_145064.3(STAC3):c.604-8C>T rs76823783 0.00762
NM_145064.3(STAC3):c.1023G>C (p.Ala341=) rs61747067 0.00529
NM_145064.3(STAC3):c.355C>T (p.Arg119Cys) rs146313451 0.00131
NM_145064.3(STAC3):c.721-3del
NM_145064.3(STAC3):c.842A>G (p.Asn281Ser) rs115276341

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