ClinVar Miner

List of variants reported as likely pathogenic for Pigmentary pallidal degeneration

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Total variants: 10
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HGVS dbSNP
NM_001324193.2(PANK2):c.-239G>C rs754521581
NM_001324193.2(PANK2):c.-59_-58dup rs1555788619
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)
NM_024960.6(PANK2):c.*40G>C rs1131692166
NM_024960.6(PANK2):c.-246+701_-246+708del rs755653150
NM_024960.6(PANK2):c.540-1G>T rs148987163
NM_024960.6(PANK2):c.608T>C (p.Leu203Ser) rs111863748
NM_024960.6(PANK2):c.712A>G (p.Ile238Val) rs761156912
NM_153638.3(PANK2):c.1412+1G>C rs1600548506

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