ClinVar Miner

List of variants reported as uncertain significance for Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)	rs1241995212
NM_001386393.1(PANK2):c.238T>A (p.Tyr80Asn)	rs2090081346
NM_001386393.1(PANK2):c.767C>T (p.Pro256Leu)	rs2090455762

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