ClinVar Miner

List of variants reported as likely benign for Pigmentary pallidal degeneration by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_001386393.1(PANK2):c.*63dup rs143725982
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541

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