ClinVar Miner

List of variants in gene LOC130065345, PANK2 studied for Pigmentary pallidal degeneration

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Total variants: 186
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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_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) rs546381069 0.00011
NM_001386393.1(PANK2):c.132C>T (p.Asp44=) rs781106176 0.00006
NM_001386393.1(PANK2):c.198G>A (p.Gly66=) rs751025789 0.00006
NM_153638.4(PANK2):c.285C>T (p.Leu95=) rs573252413 0.00005
NM_001386393.1(PANK2):c.-21G>A rs780551883 0.00004
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu) rs1375502090 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.291G>A (p.Lys97=) rs764439399 0.00004
NM_001386393.1(PANK2):c.108G>C (p.Ser36=) rs1037083433 0.00003
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys) rs528889529 0.00003
NM_001386393.1(PANK2):c.39G>A (p.Arg13=) rs1327793374 0.00003
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu) rs137852969 0.00002
NM_001386393.1(PANK2):c.204G>C (p.Ser68=) rs767219073 0.00002
NM_001386393.1(PANK2):c.294G>A (p.Arg98=) rs1443740202 0.00002
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser) rs1452787032 0.00002
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.-20A>C rs748780222 0.00001
NM_001386393.1(PANK2):c.-32C>T rs1441505244 0.00001
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys) rs1421161193 0.00001
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser) rs745590703 0.00001
NM_001386393.1(PANK2):c.180G>A (p.Ala60=) rs1167325149 0.00001
NM_001386393.1(PANK2):c.183G>T (p.Ser61=) rs966862550 0.00001
NM_001386393.1(PANK2):c.207T>A (p.Ala69=) rs750266345 0.00001
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln) rs911560228 0.00001
NM_001386393.1(PANK2):c.243del (p.Ser81fs) rs916725028 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter) rs944348405 0.00001
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly) rs775816922 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.298+2dup rs1309365137 0.00001
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp) rs752138761 0.00001
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser) rs1214737069 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu) rs774558831 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser) rs1432572102 0.00001
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu) rs752820848 0.00001
NM_153638.4(PANK2):c.245G>A (p.Arg82His) rs995058151 0.00001
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg) rs757651957 0.00001
NM_001386393.1(PANK2):c.-11G>A
NM_001386393.1(PANK2):c.-13A>G
NM_001386393.1(PANK2):c.-16G>A
NM_001386393.1(PANK2):c.-21G>T rs780551883
NM_001386393.1(PANK2):c.-22G>C
NM_001386393.1(PANK2):c.-28C>A
NM_001386393.1(PANK2):c.-28C>G
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-29C>G
NM_001386393.1(PANK2):c.-29C>T rs573948434
NM_001386393.1(PANK2):c.-31T>G
NM_001386393.1(PANK2):c.-37C>G
NM_001386393.1(PANK2):c.-3A>C
NM_001386393.1(PANK2):c.-40T>C rs555683860
NM_001386393.1(PANK2):c.-40T>G
NM_001386393.1(PANK2):c.-4G>C
NM_001386393.1(PANK2):c.-5C>T rs746763863
NM_001386393.1(PANK2):c.-7T>C
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe) rs547164263
NM_001386393.1(PANK2):c.102C>G (p.Val34=)
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
NM_001386393.1(PANK2):c.105G>T (p.Ser35=)
NM_001386393.1(PANK2):c.108G>A (p.Ser36=)
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter) rs528889529
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) rs2090073827
NM_001386393.1(PANK2):c.126C>T (p.Ala42=)
NM_001386393.1(PANK2):c.129G>C (p.Gly43=)
NM_001386393.1(PANK2):c.141G>T (p.Gly47=)
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly) rs1416234460
NM_001386393.1(PANK2):c.145C>A (p.Arg49=)
NM_001386393.1(PANK2):c.157C>T (p.Leu53=)
NM_001386393.1(PANK2):c.15C>T (p.Leu5=)
NM_001386393.1(PANK2):c.165C>T (p.Arg55=)
NM_001386393.1(PANK2):c.171G>C (p.Ala57=)
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr) rs1568550594
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala) rs767712182
NM_001386393.1(PANK2):c.183G>A (p.Ser61=)
NM_001386393.1(PANK2):c.185_197del (p.Val62fs)
NM_001386393.1(PANK2):c.186G>A (p.Val62=)
NM_001386393.1(PANK2):c.186G>T (p.Val62=)
NM_001386393.1(PANK2):c.189C>T (p.Pro63=) rs71647829
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)
NM_001386393.1(PANK2):c.192G>A (p.Ala64=)
NM_001386393.1(PANK2):c.192G>C (p.Ala64=)
NM_001386393.1(PANK2):c.192G>T (p.Ala64=)
NM_001386393.1(PANK2):c.195C>G (p.Val65=)
NM_001386393.1(PANK2):c.198G>T (p.Gly66=)
NM_001386393.1(PANK2):c.201C>A (p.Ala67=) rs756936934
NM_001386393.1(PANK2):c.201C>T (p.Ala67=) rs756936934
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter) rs137852969
NM_001386393.1(PANK2):c.204G>T (p.Ser68=)
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys) rs755932521
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)
NM_001386393.1(PANK2):c.216G>A (p.Thr72=)
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter) rs2146804492
NM_001386393.1(PANK2):c.225del (p.Arg76fs)
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala) rs1380924374
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val) rs1380924374
NM_001386393.1(PANK2):c.234C>G (p.Gly78=)
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001386393.1(PANK2):c.243C>T (p.Ser81=)
NM_001386393.1(PANK2):c.246C>T (p.Gly82=)
NM_001386393.1(PANK2):c.252C>A (p.Thr84=)
NM_001386393.1(PANK2):c.252C>T (p.Thr84=)
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.25C>G (p.Arg9Gly) rs944348405
NM_001386393.1(PANK2):c.261C>T (p.Ser87=)
NM_001386393.1(PANK2):c.262del (p.Arg88fs)
NM_001386393.1(PANK2):c.270C>T (p.Arg90=)
NM_001386393.1(PANK2):c.273C>G (p.Val91=)
NM_001386393.1(PANK2):c.273C>T (p.Val91=)
NM_001386393.1(PANK2):c.279C>T (p.Ser93=)
NM_001386393.1(PANK2):c.27A>G (p.Arg9=)
NM_001386393.1(PANK2):c.27A>T (p.Arg9=)
NM_001386393.1(PANK2):c.280C>T (p.Leu94=)
NM_001386393.1(PANK2):c.298+11C>T
NM_001386393.1(PANK2):c.298+11del
NM_001386393.1(PANK2):c.298+12G>C
NM_001386393.1(PANK2):c.298+12G>T
NM_001386393.1(PANK2):c.298+13T>A
NM_001386393.1(PANK2):c.298+18C>T
NM_001386393.1(PANK2):c.298+20C>T
NM_001386393.1(PANK2):c.298+3_298+6del
NM_001386393.1(PANK2):c.298+9T>C
NM_001386393.1(PANK2):c.30G>A (p.Leu10=)
NM_001386393.1(PANK2):c.33G>A (p.Leu11=)
NM_001386393.1(PANK2):c.34C>T (p.Leu12=)
NM_001386393.1(PANK2):c.39G>T (p.Arg13=)
NM_001386393.1(PANK2):c.40A>G (p.Met14Val) rs1368727421
NM_001386393.1(PANK2):c.45A>C (p.Gly15=)
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)
NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly)
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val) rs772205776
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe) rs772205776
NM_001386393.1(PANK2):c.57C>T (p.Leu19=)
NM_001386393.1(PANK2):c.60C>T (p.Gly20=)
NM_001386393.1(PANK2):c.63G>A (p.Ala21=)
NM_001386393.1(PANK2):c.63G>C (p.Ala21=)
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu) rs2146804825
NM_001386393.1(PANK2):c.67A>G (p.Met23Val) rs2146804825
NM_001386393.1(PANK2):c.6G>A (p.Gly2=)
NM_001386393.1(PANK2):c.6G>C (p.Gly2=)
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
NM_001386393.1(PANK2):c.78C>A (p.His26Gln) rs2090076533
NM_001386393.1(PANK2):c.81C>T (p.Gly27=)
NM_001386393.1(PANK2):c.87T>G (p.Ala29=)
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val) rs1268207892
NM_001386393.1(PANK2):c.90C>A (p.Ser30=)
NM_001386393.1(PANK2):c.93C>T (p.Ala31=)
NM_001386393.1(PANK2):c.96C>T (p.Thr32=)
NM_001386393.1(PANK2):c.99C>T (p.Ser33=)
NM_001386393.1(PANK2):c.9C>T (p.Gly3=)
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
NM_153638.4(PANK2):c.189G>A (p.Pro63=)
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala) rs2146803693
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
NM_153638.4(PANK2):c.213G>C (p.Pro71=)
NM_153638.4(PANK2):c.219A>G (p.Pro73=)
NM_153638.4(PANK2):c.222C>G (p.Ala74=)
NM_153638.4(PANK2):c.243G>T (p.Ala81=)
NM_153638.4(PANK2):c.252C>T (p.Arg84=)
NM_153638.4(PANK2):c.258A>C (p.Gly86=)
NM_153638.4(PANK2):c.264C>T (p.Gly88=)
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.273G>A (p.Pro91=)
NM_153638.4(PANK2):c.273G>C (p.Pro91=)
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) rs558404718
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe) rs558404718

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