ClinVar Miner

List of variants reported as likely benign for Pontoneocerebellar hypoplasia

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_025265.4(TSEN2):c.-391G>A rs3806662 0.09194
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_024075.4(TSEN34):c.*1177G>T rs78711269 0.03779
NM_006416.5(SLC35A1):c.*147C>T rs55960393 0.03465
NM_207346.2(TSEN54):c.*331T>A rs150621720 0.02560
NM_024075.4(TSEN34):c.*1176A>T rs78793520 0.02245
NM_006416.5(SLC35A1):c.*240G>T rs9450722 0.01462
NM_016955.4(SEPSECS):c.*371_*372del rs143987218 0.01024
NM_024075.5(TSEN34):c.-5+15G>A rs141003293 0.00497
NM_003384.2(VRK1):c.-110C>T rs77630815 0.00455
NM_001077446.4(TSEN34):c.*1053G>A rs182704571 0.00428
NM_024075.5(TSEN34):c.-95A>G rs115290127 0.00390
NM_025265.4(TSEN2):c.272-4C>G rs41293385 0.00369
NM_025265.4(TSEN2):c.-20G>A rs9871742 0.00345
NM_207346.3(TSEN54):c.*169T>C rs111972085 0.00317
NM_025265.4(TSEN2):c.-173C>T rs76012118 0.00250
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His) rs369805010 0.00193
NM_025265.4(TSEN2):c.405G>A (p.Pro135=) rs140728375 0.00090
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu) rs141249409 0.00070
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp) rs200683263 0.00061
NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln) rs138586360 0.00024
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile) rs199682817 0.00009
NM_025265.4(TSEN2):c.870A>G (p.Pro290=) rs542708828 0.00006
NM_001077446.4(TSEN34):c.*385A>T rs36622
NM_006416.5(SLC35A1):c.*294dup rs11432150
NM_016042.4(EXOSC3):c.*571TAT[1] rs34753153
NM_016955.3(SEPSECS):c.-147dup rs536637971
NM_016955.4(SEPSECS):c.*236_*237insTTT rs140928773
NM_025265.4(TSEN2):c.-200C>T rs540294443
NM_025265.4(TSEN2):c.-297C>T rs190941859
NM_025265.4(TSEN2):c.-373C>T rs550947754
NM_025265.4(TSEN2):c.-374G>A rs28657473
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319

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