ClinVar Miner

List of variants reported 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: 3
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6377del (p.Pro2126fs) rs2135798786
NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) rs1810682433
NM_018474.6(KIZ):c.86_89+19del rs2031451980

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