ClinVar Miner

List of variants studied for Pierre Robin syndrome associated with a chromosomal anomaly

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)dup
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)dup
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755901)_(19766877_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NM_005992.1(TBX1):c.1009+500_1009+502delinsAGGGCCGGCGGC rs1555896709
NM_005992.1(TBX1):c.1009+503GCCGGCGGC[3] rs1288296547
NM_005992.1(TBX1):c.131_133CGC[3] (p.Pro47_Pro48del) rs886038791
NM_005992.1(TBX1):c.188_190CGC[6] (p.Pro67dup) rs1009463279
NM_080647.1(TBX1):c.-39C>T rs72646950
NM_080647.1(TBX1):c.100G>T (p.Gly34Cys)
NM_080647.1(TBX1):c.1010-1G>A
NM_080647.1(TBX1):c.1010-7_1010-6del rs1037168604
NM_080647.1(TBX1):c.1019A>T (p.Glu340Val) rs751917634
NM_080647.1(TBX1):c.1039C>A (p.Arg347Ser)
NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) rs781731042
NM_080647.1(TBX1):c.1050C>T (p.Gly350=)
NM_080647.1(TBX1):c.1055C>T (p.Pro352Leu) rs1001921296
NM_080647.1(TBX1):c.1058C>T (p.Ala353Val)
NM_080647.1(TBX1):c.1076C>A (p.Ala359Glu) rs1157536437
NM_080647.1(TBX1):c.1115C>T (p.Ser372Leu)
NM_080647.1(TBX1):c.1122_1123insAGGGCCGGC (p.Gly375_Ala376insArgAlaGly)
NM_080647.1(TBX1):c.1132G>A (p.Gly378Ser) rs565927787
NM_080647.1(TBX1):c.1134C>T (p.Gly378=) rs941116789
NM_080647.1(TBX1):c.1150C>T (p.Pro384Ser)
NM_080647.1(TBX1):c.1151C>A (p.Pro384Gln) rs918788695
NM_080647.1(TBX1):c.1168G>A (p.Gly390Arg)
NM_080647.1(TBX1):c.1169G>A (p.Gly390Glu) rs1274082696
NM_080647.1(TBX1):c.1178C>G (p.Pro393Arg)
NM_080647.1(TBX1):c.1187C>T (p.Pro396Leu) rs746812421
NM_080647.1(TBX1):c.1194C>T (p.Pro398=) rs1305509653
NM_080647.1(TBX1):c.1211C>G (p.Ala404Gly) rs557935727
NM_080647.1(TBX1):c.1215C>T (p.Pro405=) rs200135498
NM_080647.1(TBX1):c.1225G>C (p.Glu409Gln)
NM_080647.1(TBX1):c.1234C>A (p.His412Asn) rs985907694
NM_080647.1(TBX1):c.1253A>T (p.Tyr418Phe) rs1601294456
NM_080647.1(TBX1):c.1268A>G (p.Tyr423Cys)
NM_080647.1(TBX1):c.1275_1277del (p.Tyr426del)
NM_080647.1(TBX1):c.1287C>T (p.Ala429=) rs574947516
NM_080647.1(TBX1):c.1296G>A (p.Arg432=) rs1228904807
NM_080647.1(TBX1):c.1309C>T (p.Pro437Ser) rs201993443
NM_080647.1(TBX1):c.130C>T (p.Pro44Ser)
NM_080647.1(TBX1):c.131C>T (p.Pro44Leu)
NM_080647.1(TBX1):c.1325G>C (p.Arg442Pro) rs755937050
NM_080647.1(TBX1):c.1341C>A (p.His447Gln) rs1601294758
NM_080647.1(TBX1):c.1341_1352dup (p.Ala450_His453dup) rs774578030
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1353T>G (p.His451Gln)
NM_080647.1(TBX1):c.1375G>C (p.Val459Leu)
NM_080647.1(TBX1):c.1375G>T (p.Val459Leu)
NM_080647.1(TBX1):c.137C>T (p.Pro46Leu)
NM_080647.1(TBX1):c.1381_1419del (p.Pro461_Ala473del)
NM_080647.1(TBX1):c.1383_1421del (p.Ala464_Ala476del)
NM_080647.1(TBX1):c.1392_1400del (p.Ala474_Ala476del) rs777514486
NM_080647.1(TBX1):c.1392_1403del (p.Ala473_Ala476del)
NM_080647.1(TBX1):c.1392_1406del (p.Ala472_Ala476del)
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.1399_1428del (p.Ala467_Ala476del) rs746335599
NM_080647.1(TBX1):c.1410C>T (p.Ala470=) rs1415301935
NM_080647.1(TBX1):c.1413_1421dup (p.Ala474_Ala476dup)
NM_080647.1(TBX1):c.1434G>A (p.Met478Ile) rs371506174
NM_080647.1(TBX1):c.1435T>C (p.Tyr479His)
NM_080647.1(TBX1):c.143_145dup rs886038791
NM_080647.1(TBX1):c.1447G>A (p.Gly483Arg) rs541198585
NM_080647.1(TBX1):c.1447G>T (p.Gly483Ter)
NM_080647.1(TBX1):c.1457C>A (p.Pro486Gln) rs762076391
NM_080647.1(TBX1):c.1481C>G (p.Pro494Arg)
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.160GCC[6] (p.Ala56_Ala57dup)
NM_080647.1(TBX1):c.167_175del (p.Ala56_Pro58del) rs1601283061
NM_080647.1(TBX1):c.172_197del (p.Pro58fs)
NM_080647.1(TBX1):c.193C>T (p.Pro65Ser)
NM_080647.1(TBX1):c.197_202dup rs1009463279
NM_080647.1(TBX1):c.199C>A (p.Pro67Thr)
NM_080647.1(TBX1):c.212C>G (p.Pro71Arg)
NM_080647.1(TBX1):c.243C>A (p.Ser81Arg) rs1478778776
NM_080647.1(TBX1):c.257C>G (p.Pro86Arg)
NM_080647.1(TBX1):c.257C>T (p.Pro86Leu)
NM_080647.1(TBX1):c.283G>A (p.Ala95Thr)
NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) rs1555895466
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.309_311del rs369050575
NM_080647.1(TBX1):c.321G>A (p.Val107=) rs148928907
NM_080647.1(TBX1):c.324C>T (p.Ala108=) rs757290764
NM_080647.1(TBX1):c.353C>T (p.Ala118Val) rs1601283489
NM_080647.1(TBX1):c.363C>G (p.Asp121Glu)
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080647.1(TBX1):c.411-5C>G
NM_080647.1(TBX1):c.411-7C>A
NM_080647.1(TBX1):c.420T>G (p.Phe140Leu) rs41298814
NM_080647.1(TBX1):c.421C>T (p.Pro141Ser)
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.462C>T (p.Ala154=) rs41298816
NM_080647.1(TBX1):c.476T>C (p.Leu159Pro)
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.513-8C>T rs72646960
NM_080647.1(TBX1):c.517G>A (p.Ala173Thr)
NM_080647.1(TBX1):c.567G>A (p.Thr189=) rs138724943
NM_080647.1(TBX1):c.576C>T (p.Arg192=) rs761495882
NM_080647.1(TBX1):c.582C>G (p.His194Gln) rs74315522
NM_080647.1(TBX1):c.591G>A (p.Pro197=)
NM_080647.1(TBX1):c.609C>T (p.Gly203=) rs779173153
NM_080647.1(TBX1):c.619A>G (p.Met207Val)
NM_080647.1(TBX1):c.62_257del (p.Leu21fs)
NM_080647.1(TBX1):c.63G>T (p.Leu21=) rs770754649
NM_080647.1(TBX1):c.673G>A (p.Asp225Asn)
NM_080647.1(TBX1):c.678C>T (p.Asn226=) rs149453540
NM_080647.1(TBX1):c.684C>T (p.His228=) rs200021644
NM_080647.1(TBX1):c.68C>T (p.Ala23Val)
NM_080647.1(TBX1):c.796G>A (p.Glu266Lys)
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.895G>C (p.Asp299His)
NM_080647.1(TBX1):c.909-8G>T rs753380966
NM_080647.1(TBX1):c.927C>T (p.Pro309=) rs201607803
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
NM_080647.1(TBX1):c.928G>T (p.Gly310Cys) rs41298838
NM_080647.1(TBX1):c.997G>T (p.Gly333Cys)
Single allele
TBX1, 23-BP DEL, NT1320

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.