ClinVar Miner

List of variants in gene TSEN2 reported as benign for Pontoneocerebellar hypoplasia

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_025265.4(TSEN2):c.*292G>T rs299643 0.50169
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_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_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_025265.4(TSEN2):c.108A>G (p.Glu36=) rs77258715 0.00898
NM_025265.4(TSEN2):c.*78G>A rs735640 0.00427
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_025265.4(TSEN2):c.122G>A (p.Arg41His) rs12495784

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