ClinVar Miner

List of variants in gene TSEN54 reported as uncertain significance for Pontoneocerebellar hypoplasia

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.*282T>A rs191410134 0.00158
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_207346.3(TSEN54):c.285+12G>A rs373044979 0.00080
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822 0.00019
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=) rs767631739 0.00008
NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys) rs759944703 0.00005
NM_207346.3(TSEN54):c.1430+5G>A rs367823640 0.00005
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_207346.3(TSEN54):c.*167T>C rs886053401 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln) rs886043563 0.00003
NM_207346.3(TSEN54):c.1205G>T (p.Gly402Val) rs1383991855 0.00002
NM_207346.3(TSEN54):c.1385G>A (p.Arg462Gln) rs778218563 0.00002
NM_207346.3(TSEN54):c.867G>A (p.Thr289=) rs751120868 0.00002
NM_207346.3(TSEN54):c.1067A>G (p.His356Arg) rs1221250692 0.00001
NM_207346.3(TSEN54):c.1070C>T (p.Ala357Val) rs760089379 0.00001
NM_207346.3(TSEN54):c.1486G>A (p.Gly496Arg) rs886053400 0.00001
NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser) rs1484028244 0.00001
NM_207346.3(TSEN54):c.369+5G>A rs756343304 0.00001
NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg) rs761784110 0.00001
NM_207346.3(TSEN54):c.821G>A (p.Gly274Glu) rs1460815000 0.00001
NM_207346.3(TSEN54):c.*224G>T rs2053484029
NM_207346.3(TSEN54):c.1043T>A (p.Leu348His) rs886053397
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys) rs398124621
NM_207346.3(TSEN54):c.1163G>C (p.Arg388Pro) rs796181199
NM_207346.3(TSEN54):c.1209G>C (p.Gln403His) rs886053398
NM_207346.3(TSEN54):c.1252+6C>G rs977124000
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu) rs767683456
NM_207346.3(TSEN54):c.1418T>A (p.Met473Lys) rs2053460545
NM_207346.3(TSEN54):c.1530C>A (p.Ile510=) rs754461779
NM_207346.3(TSEN54):c.285+9C>G rs200318170
NM_207346.3(TSEN54):c.286-8C>T rs886053395
NM_207346.3(TSEN54):c.341C>T (p.Pro114Leu) rs1180314456
NM_207346.3(TSEN54):c.521+9C>G rs753458014
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg) rs376310114
NM_207346.3(TSEN54):c.663G>A (p.Leu221=) rs886053396
NM_207346.3(TSEN54):c.894C>G (p.Phe298Leu) rs564262300

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