ClinVar Miner

List of variants reported as pathogenic for Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	rs137852967	0.00002
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)	rs753376100	0.00002
NM_001386393.1(PANK2):c.564G>A (p.Met188Ile)	rs1057518915

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