ClinVar Miner

List of variants reported as pathogenic 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

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs)	rs2135798786
NM_018474.6(KIZ):c.86_89+19del	rs2031451980

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