ClinVar Miner

List of variants reported as pathogenic for Pigmentary pallidal degeneration by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 9
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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.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) rs753376100 0.00002
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) rs777414421
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)

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