ClinVar Miner

List of variants in gene PANK2 reported as likely pathogenic for Pigmentary pallidal degeneration

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser) rs746484727 0.00001
NM_001386393.1(PANK2):c.*40G>C rs1131692166
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr) rs1568575271
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
NM_001386393.1(PANK2):c.1082+1G>C rs1600548506
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) rs111863748
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His) rs2090674561
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
NM_001386393.1(PANK2):c.299-1G>A
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.652-2A>G
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr) rs777624606
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872

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