ClinVar Miner

List of variants studied for Pigmentary pallidal degeneration by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184 0.00003
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln) rs1241995212
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser) rs2515522734
NM_001386393.1(PANK2):c.1207-11G>A rs753139032
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del) rs2515528533
NM_001386393.1(PANK2):c.1267dup (p.Leu423fs) rs2515528726
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu) rs2146893030
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp) rs2515542113
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs) rs1568550769
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs) rs748911913
NM_001386393.1(PANK2):c.652-2A>G rs2515498921
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile) rs763608502

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