ClinVar Miner

List of variants reported for Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration by Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002

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