ClinVar Miner

List of variants reported as likely benign for Pierpont syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) rs375411293 0.00022
NM_024665.7(TBL1XR1):c.138C>T (p.Pro46=) rs373988821 0.00014
NM_024665.7(TBL1XR1):c.204+20A>C rs377008567 0.00014
NM_024665.7(TBL1XR1):c.926-16C>G rs111696369 0.00011
NM_024665.7(TBL1XR1):c.1185T>C (p.Tyr395=) rs769514144 0.00007
NM_024665.7(TBL1XR1):c.59-5T>C rs773473383 0.00006
NM_024665.7(TBL1XR1):c.792G>A (p.Gln264=) rs754559924 0.00006
NM_024665.7(TBL1XR1):c.882C>T (p.Asp294=) rs747230542 0.00006
NM_024665.7(TBL1XR1):c.1250+7C>T rs1451573835 0.00005
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374 0.00005
NM_024665.7(TBL1XR1):c.428-7G>A rs751979734 0.00005
NM_024665.7(TBL1XR1):c.843C>T (p.Ile281=) rs377292061 0.00005
NM_024665.7(TBL1XR1):c.428-8C>T rs755172052 0.00004
NM_024665.7(TBL1XR1):c.767-10T>C rs374414651 0.00004
NM_024665.7(TBL1XR1):c.925+13T>C rs774246831 0.00004
NM_024665.7(TBL1XR1):c.926-18A>G rs556726946 0.00004
NM_024665.7(TBL1XR1):c.1266T>C (p.Ser422=) rs373306105 0.00003
NM_024665.7(TBL1XR1):c.1413G>A (p.Thr471=) rs768492558 0.00003
NM_024665.7(TBL1XR1):c.171A>G (p.Leu57=) rs144606780 0.00003
NM_024665.7(TBL1XR1):c.58+18G>A rs532484549 0.00003
NM_024665.7(TBL1XR1):c.660A>G (p.Gln220=) rs746245898 0.00003
NM_024665.7(TBL1XR1):c.702+13A>G rs751169814 0.00003
NM_024665.7(TBL1XR1):c.714A>G (p.Thr238=) rs750132632 0.00003
NM_024665.7(TBL1XR1):c.798A>G (p.Lys266=) rs779782589 0.00003
NM_024665.7(TBL1XR1):c.925+20C>T rs959944490 0.00003
NM_024665.7(TBL1XR1):c.1251-15T>C rs768431229 0.00002
NM_024665.7(TBL1XR1):c.1365G>A (p.Arg455=) rs1407933921 0.00002
NM_024665.7(TBL1XR1):c.318A>G (p.Gln106=) rs369839013 0.00002
NM_024665.7(TBL1XR1):c.342C>T (p.Ala114=) rs780887368 0.00002
NM_024665.7(TBL1XR1):c.366A>T (p.Gly122=) rs189284362 0.00002
NM_024665.7(TBL1XR1):c.561-12A>G rs1298509198 0.00002
NM_024665.7(TBL1XR1):c.767-7A>G rs1032321341 0.00002
NM_024665.7(TBL1XR1):c.865-18T>G rs564993517 0.00002
NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=) rs778688857 0.00002
NM_024665.7(TBL1XR1):c.1089C>G (p.Leu363=) rs749108767 0.00001
NM_024665.7(TBL1XR1):c.1152C>T (p.Val384=) rs770559682 0.00001
NM_024665.7(TBL1XR1):c.1220A>G (p.Asn407Ser) rs781011308 0.00001
NM_024665.7(TBL1XR1):c.1251-10C>T rs779947196 0.00001
NM_024665.7(TBL1XR1):c.1392A>G (p.Lys464=) rs776138830 0.00001
NM_024665.7(TBL1XR1):c.1506A>G (p.Ala502=) rs1468675014 0.00001
NM_024665.7(TBL1XR1):c.150T>A (p.Ile50=) rs1025942647 0.00001
NM_024665.7(TBL1XR1):c.1527A>C (p.Val509=) rs768850049 0.00001
NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=) rs371553222 0.00001
NM_024665.7(TBL1XR1):c.159C>T (p.Ile53=) rs1331072894 0.00001
NM_024665.7(TBL1XR1):c.205-11T>C rs747992136 0.00001
NM_024665.7(TBL1XR1):c.297T>C (p.Tyr99=) rs1418550335 0.00001
NM_024665.7(TBL1XR1):c.396T>C (p.Asn132=) rs930714302 0.00001
NM_024665.7(TBL1XR1):c.402G>A (p.Glu134=) rs1376215669 0.00001
NM_024665.7(TBL1XR1):c.560+7T>C rs1009061727 0.00001
NM_024665.7(TBL1XR1):c.594T>C (p.Leu198=) rs1021701037 0.00001
NM_024665.7(TBL1XR1):c.657G>A (p.Gly219=) rs772368300 0.00001
NM_024665.7(TBL1XR1):c.783C>T (p.Thr261=) rs781650987 0.00001
NM_024665.7(TBL1XR1):c.915T>A (p.Pro305=) rs1399203622 0.00001
NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=) rs757159620 0.00001
NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)
NM_024665.7(TBL1XR1):c.1048-7T>C
NM_024665.7(TBL1XR1):c.1090T>C (p.Leu364=) rs2108436409
NM_024665.7(TBL1XR1):c.1095C>G (p.Ala365=) rs2108436387
NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)
NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)
NM_024665.7(TBL1XR1):c.1122+12A>G
NM_024665.7(TBL1XR1):c.1122+13G>C rs973017561
NM_024665.7(TBL1XR1):c.1122+15A>T rs781151039
NM_024665.7(TBL1XR1):c.1122+16G>A
NM_024665.7(TBL1XR1):c.1143C>T (p.Asp381=) rs773941585
NM_024665.7(TBL1XR1):c.1161G>A (p.Leu387=)
NM_024665.7(TBL1XR1):c.1173T>C (p.Asn391=)
NM_024665.7(TBL1XR1):c.117A>C (p.Ile39=) rs2108504046
NM_024665.7(TBL1XR1):c.1250+13T>C
NM_024665.7(TBL1XR1):c.1250+17A>G
NM_024665.7(TBL1XR1):c.1251-10_1251-7del rs778600858
NM_024665.7(TBL1XR1):c.1251-11T>A rs2108408439
NM_024665.7(TBL1XR1):c.1251-19T>C
NM_024665.7(TBL1XR1):c.1251-9C>T
NM_024665.7(TBL1XR1):c.1257C>T (p.Ser419=) rs2108408341
NM_024665.7(TBL1XR1):c.126C>T (p.Ala42=) rs1553817646
NM_024665.7(TBL1XR1):c.129C>G (p.Leu43=) rs769063142
NM_024665.7(TBL1XR1):c.129C>T (p.Leu43=) rs769063142
NM_024665.7(TBL1XR1):c.1302C>T (p.Cys434=)
NM_024665.7(TBL1XR1):c.1344A>G (p.Val448=)
NM_024665.7(TBL1XR1):c.1383T>C (p.Ser461=)
NM_024665.7(TBL1XR1):c.138C>G (p.Pro46=)
NM_024665.7(TBL1XR1):c.1417-10A>G
NM_024665.7(TBL1XR1):c.1417-19T>C rs2108378479
NM_024665.7(TBL1XR1):c.1417-7C>G rs761210577
NM_024665.7(TBL1XR1):c.1425T>C (p.Ala475=)
NM_024665.7(TBL1XR1):c.1449A>G (p.Thr483=)
NM_024665.7(TBL1XR1):c.145T>C (p.Leu49=)
NM_024665.7(TBL1XR1):c.1488C>T (p.Asp496=)
NM_024665.7(TBL1XR1):c.1512T>C (p.Asp504=)
NM_024665.7(TBL1XR1):c.1518+18T>A
NM_024665.7(TBL1XR1):c.1518+20T>C
NM_024665.7(TBL1XR1):c.1518+8_1518+12del
NM_024665.7(TBL1XR1):c.1519-17A>G
NM_024665.7(TBL1XR1):c.1527A>T (p.Val509=)
NM_024665.7(TBL1XR1):c.1539G>C (p.Arg513=) rs2108374139
NM_024665.7(TBL1XR1):c.1542A>G (p.Lys514=)
NM_024665.7(TBL1XR1):c.156C>T (p.Ile52=)
NM_024665.7(TBL1XR1):c.180A>G (p.Val60=) rs749015447
NM_024665.7(TBL1XR1):c.186A>G (p.Ala62=)
NM_024665.7(TBL1XR1):c.198T>A (p.Ile66=)
NM_024665.7(TBL1XR1):c.204+10A>G
NM_024665.7(TBL1XR1):c.204+15T>C
NM_024665.7(TBL1XR1):c.204+20A>G rs377008567
NM_024665.7(TBL1XR1):c.204+8A>G
NM_024665.7(TBL1XR1):c.204+9G>A rs1180832176
NM_024665.7(TBL1XR1):c.205-13T>A
NM_024665.7(TBL1XR1):c.205-9C>T
NM_024665.7(TBL1XR1):c.216G>A (p.Leu72=) rs2108497392
NM_024665.7(TBL1XR1):c.258C>T (p.Ala86=)
NM_024665.7(TBL1XR1):c.273A>G (p.Val91=) rs1577029566
NM_024665.7(TBL1XR1):c.330T>C (p.Ala110=) rs774761056
NM_024665.7(TBL1XR1):c.333T>C (p.Ala111=)
NM_024665.7(TBL1XR1):c.351A>T (p.Ala117=)
NM_024665.7(TBL1XR1):c.354C>T (p.Ala118=)
NM_024665.7(TBL1XR1):c.360A>G (p.Gln120=)
NM_024665.7(TBL1XR1):c.390A>C (p.Thr130=) rs1335460465
NM_024665.7(TBL1XR1):c.399G>A (p.Gly133=) rs751925024
NM_024665.7(TBL1XR1):c.417T>C (p.His139=)
NM_024665.7(TBL1XR1):c.427+15_427+17del
NM_024665.7(TBL1XR1):c.427+9A>T rs2108496137
NM_024665.7(TBL1XR1):c.428-19C>T
NM_024665.7(TBL1XR1):c.428-20A>G
NM_024665.7(TBL1XR1):c.428-20_428-17del
NM_024665.7(TBL1XR1):c.428-7G>T rs751979734
NM_024665.7(TBL1XR1):c.459G>A (p.Gly153=)
NM_024665.7(TBL1XR1):c.513A>G (p.Glu171=)
NM_024665.7(TBL1XR1):c.519T>C (p.Phe173=) rs765740107
NM_024665.7(TBL1XR1):c.549C>G (p.Leu183=)
NM_024665.7(TBL1XR1):c.549C>T (p.Leu183=)
NM_024665.7(TBL1XR1):c.555A>G (p.Ala185=) rs1047926029
NM_024665.7(TBL1XR1):c.558A>G (p.Ser186=) rs760252840
NM_024665.7(TBL1XR1):c.560+15G>T
NM_024665.7(TBL1XR1):c.560+17G>C
NM_024665.7(TBL1XR1):c.560+19T>C
NM_024665.7(TBL1XR1):c.561-11T>C
NM_024665.7(TBL1XR1):c.561-12A>C rs1298509198
NM_024665.7(TBL1XR1):c.561-13C>T
NM_024665.7(TBL1XR1):c.561-13del rs2108490955
NM_024665.7(TBL1XR1):c.561-15T>C rs201736942
NM_024665.7(TBL1XR1):c.58+14dup
NM_024665.7(TBL1XR1):c.58+8C>T rs2108539820
NM_024665.7(TBL1XR1):c.585A>C (p.Ile195=)
NM_024665.7(TBL1XR1):c.59-13_59-9del rs759688772
NM_024665.7(TBL1XR1):c.59-15_59-14del rs775386912
NM_024665.7(TBL1XR1):c.59-22_59-19del
NM_024665.7(TBL1XR1):c.59-5T>G
NM_024665.7(TBL1XR1):c.59-8G>T
NM_024665.7(TBL1XR1):c.59-8_59-7insGT
NM_024665.7(TBL1XR1):c.621A>G (p.Thr207=)
NM_024665.7(TBL1XR1):c.693A>G (p.Leu231=) rs2108490620
NM_024665.7(TBL1XR1):c.6T>C (p.Ser2=) rs2108539980
NM_024665.7(TBL1XR1):c.702+12T>C rs2108490586
NM_024665.7(TBL1XR1):c.702+17C>T
NM_024665.7(TBL1XR1):c.703-4G>A
NM_024665.7(TBL1XR1):c.714A>C (p.Thr238=)
NM_024665.7(TBL1XR1):c.714A>T (p.Thr238=) rs750132632
NM_024665.7(TBL1XR1):c.718C>T (p.Leu240=)
NM_024665.7(TBL1XR1):c.732C>T (p.Ser244=)
NM_024665.7(TBL1XR1):c.75A>G (p.Ala25=)
NM_024665.7(TBL1XR1):c.766+13T>C
NM_024665.7(TBL1XR1):c.766+17C>T
NM_024665.7(TBL1XR1):c.766+7G>A
NM_024665.7(TBL1XR1):c.766+9A>G
NM_024665.7(TBL1XR1):c.767-23_767-18del
NM_024665.7(TBL1XR1):c.767-9G>A
NM_024665.7(TBL1XR1):c.780C>T (p.Ser260=)
NM_024665.7(TBL1XR1):c.813A>G (p.Ala271=) rs369700699
NM_024665.7(TBL1XR1):c.819A>G (p.Lys273=) rs1036763376
NM_024665.7(TBL1XR1):c.840C>T (p.Phe280=) rs1716458483
NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=)
NM_024665.7(TBL1XR1):c.84T>C (p.Phe28=) rs1049402673
NM_024665.7(TBL1XR1):c.864+7del
NM_024665.7(TBL1XR1):c.865-13_865-8del rs774465473
NM_024665.7(TBL1XR1):c.865-14C>T
NM_024665.7(TBL1XR1):c.865-5C>G rs1221661271
NM_024665.7(TBL1XR1):c.865-6T>A
NM_024665.7(TBL1XR1):c.906A>G (p.Gln302=)
NM_024665.7(TBL1XR1):c.925+12A>T
NM_024665.7(TBL1XR1):c.925+7T>C rs1716296692
NM_024665.7(TBL1XR1):c.926-12G>T rs1715114156
NM_024665.7(TBL1XR1):c.926-20T>C rs2108437610
NM_024665.7(TBL1XR1):c.926-4G>T
NM_024665.7(TBL1XR1):c.926-6T>C rs1553810291
NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)

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