ClinVar Miner

List of variants reported as pathogenic for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 by Myriad Genetics, Inc.

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555

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