ClinVar Miner

List of variants studied for autosomal recessive disease by Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs) rs2135798786

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