ClinVar Miner

List of variants reported as uncertain significance for Pigmentary pallidal degeneration by Illumina Laboratory Services, Illumina

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.*382C>T rs71647861 0.00144
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_001386393.1(PANK2):c.*541C>T rs886056655 0.00055
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_001386393.1(PANK2):c.*376A>G rs746515620 0.00005
NM_001386393.1(PANK2):c.*534A>G rs780398812 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001386393.1(PANK2):c.*391C>G rs1273989006 0.00001
NM_001386393.1(PANK2):c.*407A>G rs886056654 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) rs769505139 0.00001
NM_001386393.1(PANK2):c.*468T>C rs541731517
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-29C>T rs573948434
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) rs2090073827
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) rs558404718
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650

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