ClinVar Miner

List of variants reported as benign for Pontoneocerebellar hypoplasia by Illumina Laboratory Services, Illumina

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_001077446.4(TSEN34):c.795= (p.Pro265=) rs7595 0.80164
NM_001077446.4(TSEN34):c.*497= rs36621 0.80151
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_006416.5(SLC35A1):c.*302A>G rs1051131 0.61356
NM_006416.5(SLC35A1):c.*648T>G rs1051148 0.61316
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_025265.4(TSEN2):c.-209G>T rs709161 0.56522
NM_025265.4(TSEN2):c.*292G>T rs299643 0.50169
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.285+3G>A rs8074291 0.19227
NM_207346.3(TSEN54):c.333C>G (p.Arg111=) rs6501818 0.19222
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_025265.4(TSEN2):c.377G>A (p.Arg126His) rs33955793 0.07115
NM_025265.4(TSEN2):c.162G>A (p.Ala54=) rs78685815 0.06643
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_001077446.4(TSEN34):c.*928A>G rs144441443 0.02975
NM_001077446.4(TSEN34):c.*1128G>T rs79447697 0.02881
NM_001077446.4(TSEN34):c.*29G>A rs2289145 0.02347
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=) rs11879943 0.02345
NM_025265.4(TSEN2):c.639T>C (p.Asp213=) rs3796329 0.02309
NM_025265.4(TSEN2):c.327G>A (p.Glu109=) rs77899976 0.02296
NM_025265.4(TSEN2):c.963G>A (p.Glu321=) rs17036879 0.01671
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_001077446.4(TSEN34):c.*688T>A rs115025822 0.01302
NM_025265.4(TSEN2):c.-220G>A rs182837891 0.01211
NM_025265.4(TSEN2):c.-199G>T rs41293381 0.01068
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_001077446.4(TSEN34):c.*815G>A rs36620 0.00944
NM_025265.4(TSEN2):c.108A>G (p.Glu36=) rs77258715 0.00898
NM_001077446.4(TSEN34):c.*175T>C rs77548142 0.00549
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val) rs17849378 0.00493
NM_001077446.4(TSEN34):c.*109A>G rs181231588 0.00482
NM_025265.4(TSEN2):c.*78G>A rs735640 0.00427
NM_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_001077446.4(TSEN34):c.*865A>G rs187570218 0.00272
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_001077446.4(TSEN34):c.*1163C>G rs115093373
NM_001077446.4(TSEN34):c.*245A>C rs4042
NM_001077446.4(TSEN34):c.*385= rs1156850349
NM_001077446.4(TSEN34):c.*385A>C rs36622
NM_006416.5(SLC35A1):c.*521_*522insAATG rs10681831
NM_025265.4(TSEN2):c.122G>A (p.Arg41His) rs12495784

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