ClinVar Miner

List of variants in gene TSEN34 reported as benign for Pontoneocerebellar hypoplasia

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001077446.4(TSEN34):c.795= (p.Pro265=) rs7595 0.80164
NM_001077446.4(TSEN34):c.*497= rs36621 0.80151
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_001077446.4(TSEN34):c.*688T>A rs115025822 0.01302
NM_001077446.4(TSEN34):c.*815G>A rs36620 0.00944
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_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_001077446.4(TSEN34):c.*865A>G rs187570218 0.00272
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

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