ClinVar Miner

List of variants studied for Triglyceride storage disease with ichthyosis by Pediatrics Genetics, Post Graduate Institute of Medical Education and Research

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter) rs2084784131

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