ClinVar Miner

List of variants reported as uncertain significance for Pierpont syndrome by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser) rs372813783 0.00006
NM_024665.7(TBL1XR1):c.427+6C>T rs574703637 0.00004
NM_024665.7(TBL1XR1):c.1416+4T>C rs760434778 0.00002
NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val) rs749382891 0.00002
NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr) rs756214140 0.00002
NM_024665.7(TBL1XR1):c.961A>G (p.Thr321Ala) rs753108357 0.00002
NM_024665.7(TBL1XR1):c.1047+3A>G rs1320754324 0.00001
NM_024665.7(TBL1XR1):c.1047+4A>G rs752675721 0.00001
NM_024665.7(TBL1XR1):c.1172A>G (p.Asn391Ser) rs1714446805 0.00001
NM_024665.7(TBL1XR1):c.1228A>C (p.Asn410His) rs954146086 0.00001
NM_024665.7(TBL1XR1):c.1235A>G (p.Asn412Ser) rs1553808729 0.00001
NM_024665.7(TBL1XR1):c.1246G>A (p.Ala416Thr) rs1576982573 0.00001
NM_024665.7(TBL1XR1):c.341C>T (p.Ala114Val) rs747826896 0.00001
NM_024665.7(TBL1XR1):c.441T>G (p.Asp147Glu) rs1197826368 0.00001
NM_024665.7(TBL1XR1):c.443T>C (p.Met148Thr) rs375312919 0.00001
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) rs1339329131 0.00001
NM_024665.7(TBL1XR1):c.447G>T (p.Met149Ile) rs1716927122 0.00001
NM_024665.7(TBL1XR1):c.98A>G (p.His33Arg) rs919621560 0.00001
NC_000003.11:g.(?_176743266)_(176782785_?)dup
NC_000003.11:g.(?_176743286)_(176782765_?)dup
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg) rs1576994101
NM_024665.7(TBL1XR1):c.1022C>T (p.Pro341Leu)
NM_024665.7(TBL1XR1):c.1046C>T (p.Thr349Met)
NM_024665.7(TBL1XR1):c.1047+5G>T
NM_024665.7(TBL1XR1):c.1047G>A (p.Thr349=) rs765557053
NM_024665.7(TBL1XR1):c.1047G>T (p.Thr349=)
NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser)
NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe) rs2108436373
NM_024665.7(TBL1XR1):c.1122+5T>C
NM_024665.7(TBL1XR1):c.1125A>G (p.Ile375Met) rs1714452457
NM_024665.7(TBL1XR1):c.1126T>C (p.Trp376Arg) rs1064795585
NM_024665.7(TBL1XR1):c.113A>G (p.Asn38Ser) rs1717436350
NM_024665.7(TBL1XR1):c.1145A>G (p.Asn382Ser) rs1282634331
NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe)
NM_024665.7(TBL1XR1):c.1151T>C (p.Val384Ala) rs2108414521
NM_024665.7(TBL1XR1):c.1160T>C (p.Leu387Ser) rs2108414472
NM_024665.7(TBL1XR1):c.1171A>G (p.Asn391Asp)
NM_024665.7(TBL1XR1):c.118_119insGTCAGTCCATTT (p.Asn40delinsSerGlnSerIleTyr) rs1717436007
NM_024665.7(TBL1XR1):c.119A>G (p.Asn40Ser) rs2108504030
NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser) rs1020225336
NM_024665.7(TBL1XR1):c.1219A>G (p.Asn407Asp)
NM_024665.7(TBL1XR1):c.1225C>A (p.Pro409Thr)
NM_024665.7(TBL1XR1):c.1225C>G (p.Pro409Ala) rs1008313618
NM_024665.7(TBL1XR1):c.122G>A (p.Gly41Asp) rs1234470093
NM_024665.7(TBL1XR1):c.1240A>C (p.Met414Leu)
NM_024665.7(TBL1XR1):c.124G>A (p.Ala42Thr)
NM_024665.7(TBL1XR1):c.1250+6A>T
NM_024665.7(TBL1XR1):c.1290C>A (p.Asp430Glu)
NM_024665.7(TBL1XR1):c.1301G>A (p.Cys434Tyr) rs1372547105
NM_024665.7(TBL1XR1):c.130G>A (p.Val44Ile) rs1553817638
NM_024665.7(TBL1XR1):c.1323_1325del (p.His441del) rs2108408054
NM_024665.7(TBL1XR1):c.1333G>A (p.Val445Met)
NM_024665.7(TBL1XR1):c.1342G>A (p.Val448Ile) rs1714230654
NM_024665.7(TBL1XR1):c.1346C>T (p.Ala449Val)
NM_024665.7(TBL1XR1):c.1364G>A (p.Arg455Lys)
NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)
NM_024665.7(TBL1XR1):c.139G>A (p.Ala47Thr) rs1253058954
NM_024665.7(TBL1XR1):c.1416+20A>G
NM_024665.7(TBL1XR1):c.1417A>G (p.Thr473Ala)
NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile) rs1560091765
NM_024665.7(TBL1XR1):c.1518+3A>G
NM_024665.7(TBL1XR1):c.1518A>C (p.Ser506=)
NM_024665.7(TBL1XR1):c.1523G>A (p.Cys508Tyr) rs2108374207
NM_024665.7(TBL1XR1):c.1537C>T (p.Arg513Trp)
NM_024665.7(TBL1XR1):c.17A>G (p.Asp6Gly) rs1577062828
NM_024665.7(TBL1XR1):c.197T>G (p.Ile66Ser) rs1717428641
NM_024665.7(TBL1XR1):c.204_204+2dup
NM_024665.7(TBL1XR1):c.205-15A>G
NM_024665.7(TBL1XR1):c.205-3C>T rs1320026361
NM_024665.7(TBL1XR1):c.205G>T (p.Asp69Tyr) rs2108497431
NM_024665.7(TBL1XR1):c.232A>G (p.Ile78Val) rs935282343
NM_024665.7(TBL1XR1):c.241C>G (p.Leu81Val)
NM_024665.7(TBL1XR1):c.249G>C (p.Leu83=)
NM_024665.7(TBL1XR1):c.257_271del (p.Ala86_Asp90del)
NM_024665.7(TBL1XR1):c.259G>A (p.Val87Ile) rs751513385
NM_024665.7(TBL1XR1):c.277C>G (p.Gln93Glu)
NM_024665.7(TBL1XR1):c.283A>G (p.Arg95Gly) rs2108497148
NM_024665.7(TBL1XR1):c.28T>C (p.Phe10Leu) rs1718967303
NM_024665.7(TBL1XR1):c.303T>G (p.Asp101Glu) rs764319248
NM_024665.7(TBL1XR1):c.307C>G (p.Leu103Val)
NM_024665.7(TBL1XR1):c.308T>C (p.Leu103Pro) rs2108497048
NM_024665.7(TBL1XR1):c.321_338dup (p.Ala118_Ser119insAlaAlaAlaAlaAlaAla)
NM_024665.7(TBL1XR1):c.323C>T (p.Ala108Val) rs1056676313
NM_024665.7(TBL1XR1):c.324_341dup (p.Ala113_Ala118dup) rs1553816164
NM_024665.7(TBL1XR1):c.327_353del (p.Ala110_Ala118del)
NM_024665.7(TBL1XR1):c.333_350del (p.Ala113_Ala118del) rs1462665726
NM_024665.7(TBL1XR1):c.333_350dup (p.Ala113_Ala118dup) rs1462665726
NM_024665.7(TBL1XR1):c.342_350del (p.Ala116_Ala118del) rs746988856
NM_024665.7(TBL1XR1):c.342_350dup (p.Ala116_Ala118dup) rs746988856
NM_024665.7(TBL1XR1):c.350C>T (p.Ala117Val)
NM_024665.7(TBL1XR1):c.353C>A (p.Ala118Asp) rs749382891
NM_024665.7(TBL1XR1):c.355A>G (p.Ser119Gly)
NM_024665.7(TBL1XR1):c.356G>A (p.Ser119Asn) rs756214140
NM_024665.7(TBL1XR1):c.365G>A (p.Gly122Glu)
NM_024665.7(TBL1XR1):c.38A>G (p.Tyr13Cys) rs1405162373
NM_024665.7(TBL1XR1):c.395A>G (p.Asn132Ser)
NM_024665.7(TBL1XR1):c.413C>G (p.Ala138Gly) rs1717082998
NM_024665.7(TBL1XR1):c.434A>T (p.His145Leu)
NM_024665.7(TBL1XR1):c.478A>C (p.Asn160His) rs2108492417
NM_024665.7(TBL1XR1):c.490G>C (p.Val164Leu) rs2108492388
NM_024665.7(TBL1XR1):c.521T>A (p.Ile174Asn) rs1716918794
NM_024665.7(TBL1XR1):c.526G>T (p.Ala176Ser)
NM_024665.7(TBL1XR1):c.533A>G (p.Asn178Ser)
NM_024665.7(TBL1XR1):c.542G>A (p.Ser181Asn) rs1367919718
NM_024665.7(TBL1XR1):c.549_551del (p.Leu184del)
NM_024665.7(TBL1XR1):c.59-3T>C rs2108504149
NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)
NM_024665.7(TBL1XR1):c.604A>C (p.Ser202Arg) rs2108490815
NM_024665.7(TBL1XR1):c.619A>G (p.Thr207Ala)
NM_024665.7(TBL1XR1):c.629T>G (p.Val210Gly)
NM_024665.7(TBL1XR1):c.665T>A (p.Val222Asp)
NM_024665.7(TBL1XR1):c.671G>T (p.Ser224Ile)
NM_024665.7(TBL1XR1):c.678G>C (p.Lys226Asn)
NM_024665.7(TBL1XR1):c.700A>G (p.Asn234Asp) rs752153431
NM_024665.7(TBL1XR1):c.703A>G (p.Ser235Gly)
NM_024665.7(TBL1XR1):c.704G>A (p.Ser235Asn)
NM_024665.7(TBL1XR1):c.712A>C (p.Thr238Pro) rs1716484332
NM_024665.7(TBL1XR1):c.712A>G (p.Thr238Ala)
NM_024665.7(TBL1XR1):c.724A>G (p.Thr242Ala)
NM_024665.7(TBL1XR1):c.787G>A (p.Gly263Arg) rs2108479602
NM_024665.7(TBL1XR1):c.818A>G (p.Lys273Arg)
NM_024665.7(TBL1XR1):c.827A>G (p.Lys276Arg)
NM_024665.7(TBL1XR1):c.887A>G (p.His296Arg)
NM_024665.7(TBL1XR1):c.925+3A>G
NM_024665.7(TBL1XR1):c.959A>C (p.Asn320Thr)
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)

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