ClinVar Miner

List of variants in gene combination LOC130065345, PANK2 reported as benign for Pigmentary pallidal degeneration

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
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.281G>C (p.Arg94Pro) rs71647827 0.00115
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_001386393.1(PANK2):c.132C>T (p.Asp44=) rs781106176 0.00006
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084

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