ClinVar Miner

List of variants reported as uncertain significance for Pontoneocerebellar hypoplasia

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ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001077446.4(TSEN34):c.*993C>T rs535031564 0.00192
NM_025265.4(TSEN2):c.*419A>G rs139545175 0.00176
NM_207346.3(TSEN54):c.*282T>A rs191410134 0.00158
NM_001077446.4(TSEN34):c.*496T>A rs190495812 0.00130
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_025265.4(TSEN2):c.-353G>T rs1023680154 0.00086
NM_207346.3(TSEN54):c.285+12G>A rs373044979 0.00080
NM_025265.4(TSEN2):c.1248+15G>C rs200663602 0.00073
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_025265.4(TSEN2):c.990A>G (p.Lys330=) rs113260160 0.00063
NM_001077446.4(TSEN34):c.*1046T>C rs553497009 0.00062
NM_025265.4(TSEN2):c.522C>T (p.Asn174=) rs141580750 0.00059
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro) rs200004897 0.00034
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_025265.4(TSEN2):c.*475C>T rs145812749 0.00027
NM_025265.4(TSEN2):c.309G>A (p.Arg103=) rs148549222 0.00026
NM_025265.4(TSEN2):c.-201C>T rs776511215 0.00024
NM_001077446.4(TSEN34):c.*692A>G rs886054627 0.00021
NM_025265.4(TSEN2):c.*430G>A rs145164317 0.00020
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822 0.00019
NM_001077446.4(TSEN34):c.*948C>T rs886054629 0.00017
NM_025265.4(TSEN2):c.*458C>T rs559783669 0.00016
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys) rs140979604 0.00016
NM_003384.2(VRK1):c.-81C>T rs886050948 0.00014
NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=) rs371073764 0.00014
NM_025265.4(TSEN2):c.-355C>T rs886057905 0.00010
NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn) rs757172883 0.00009
NM_025265.4(TSEN2):c.*56A>T rs749423706 0.00008
NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala) rs201734805 0.00008
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=) rs767631739 0.00008
NM_001077446.4(TSEN34):c.*458C>T rs905318412 0.00006
NM_025265.4(TSEN2):c.*211C>T rs886057911 0.00006
NM_025265.4(TSEN2):c.1104A>G (p.Leu368=) rs761076607 0.00006
NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro) rs778510316 0.00005
NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys) rs759944703 0.00005
NM_207346.3(TSEN54):c.1430+5G>A rs367823640 0.00005
NM_025265.4(TSEN2):c.-222G>A rs533687592 0.00004
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter) rs201467485 0.00004
NM_025265.4(TSEN2):c.768G>A (p.Glu256=) rs200009549 0.00004
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_001077446.4(TSEN34):c.*358T>C rs762136353 0.00003
NM_001077446.4(TSEN34):c.675A>G (p.Arg225=) rs375366303 0.00003
NM_025265.4(TSEN2):c.1249-12A>G rs370637450 0.00003
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_001077446.4(TSEN34):c.*999A>G rs1437168457 0.00002
NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys) rs758855323 0.00002
NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln) rs200274242 0.00002
NM_001077446.4(TSEN34):c.591C>G (p.Ala197=) rs781446570 0.00002
NM_025265.4(TSEN2):c.-160C>G rs372043523 0.00002
NM_025265.4(TSEN2):c.-224G>C rs1175377888 0.00002
NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile) rs1178412243 0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser) rs202056552 0.00002
NM_025265.4(TSEN2):c.961-14G>A rs748777382 0.00002
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_001077446.4(TSEN34):c.*758T>G rs989200379 0.00001
NM_001077446.4(TSEN34):c.*836C>T rs1476835074 0.00001
NM_001077446.4(TSEN34):c.*94C>T rs886054626 0.00001
NM_001077446.4(TSEN34):c.153G>A (p.Leu51=) rs1276930053 0.00001
NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro) rs767815202 0.00001
NM_001077446.4(TSEN34):c.765C>T (p.His255=) rs148706818 0.00001
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=) rs749845322 0.00001
NM_025265.4(TSEN2):c.*95T>C rs528422124 0.00001
NM_025265.4(TSEN2):c.-105A>G rs770631241 0.00001
NM_025265.4(TSEN2):c.-13C>T rs780952847 0.00001
NM_025265.4(TSEN2):c.-18+10G>A rs886057908 0.00001
NM_025265.4(TSEN2):c.105A>G (p.Lys35=) rs777378178 0.00001
NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys) rs138662263 0.00001
NM_025265.4(TSEN2):c.1233C>T (p.Ser411=) rs747491166 0.00001
NM_025265.4(TSEN2):c.657T>C (p.His219=) rs754200115 0.00001
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) rs760813133 0.00001
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_001077446.4(TSEN34):c.*1078del rs886054630
NM_001077446.4(TSEN34):c.*199A>T rs527437622
NM_001077446.4(TSEN34):c.*276G>C rs1281858067
NM_001077446.4(TSEN34):c.*384G>C rs1052800195
NM_001077446.4(TSEN34):c.*842T>G rs569859820
NM_001077446.4(TSEN34):c.*849AT[3] rs746578183
NM_001077446.4(TSEN34):c.*863G>A rs920714892
NM_001077446.4(TSEN34):c.183C>A (p.Ala61=) rs886054624
NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter) rs1568849876
NM_001077446.4(TSEN34):c.294C>T (p.Ser98=) rs770587931
NM_001077446.4(TSEN34):c.687G>A (p.Glu229=) rs886054625
NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys) rs1307925755
NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys) rs770199288
NM_001077446.4(TSEN34):c.96G>T (p.Thr32=) rs931778585
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) rs748309797
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4] rs779134137
NM_016955.3(SEPSECS):c.-147_-146dup rs536637971
NM_016955.3(SEPSECS):c.-160C>T rs111926440
NM_016955.4(SEPSECS):c.*254_*257del rs577008196
NM_016955.4(SEPSECS):c.*3402AAT[1] rs886059339
NM_016955.4(SEPSECS):c.269+9_269+12del rs748765764
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu) rs760844669
NM_024075.4(TSEN34):c.-175C>A rs886054622
NM_024075.5(TSEN34):c.-41G>A rs886054623
NM_025265.4(TSEN2):c.*106A>G rs1276816567
NM_025265.4(TSEN2):c.*198A>G rs551722010
NM_025265.4(TSEN2):c.*19C>T rs1274814643
NM_025265.4(TSEN2):c.*448C>G rs886057912
NM_025265.4(TSEN2):c.-130T>C rs886057907
NM_025265.4(TSEN2):c.-219C>G rs886057906
NM_025265.4(TSEN2):c.-293A>G rs1486288895
NM_025265.4(TSEN2):c.-382A>C rs886057904
NM_025265.4(TSEN2):c.-91A>C rs866706372
NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu) rs370820344
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser) rs886057909
NM_025265.4(TSEN2):c.680C>T (p.Ala227Val) rs886057910
NM_025265.4(TSEN2):c.704A>G (p.His235Arg) rs769122669
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.13C>T (p.Pro5Ser) rs886053394
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.16G>C (p.Glu6Gln) rs1377971286
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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