ClinVar Miner

List of variants in gene LOC126806878, TBL1XR1 studied for Pierpont syndrome

Included ClinVar conditions (2):
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.926-8C>T rs77478951 0.07381
NM_024665.7(TBL1XR1):c.926-16C>G rs111696369 0.00011
NM_024665.7(TBL1XR1):c.926-18A>G rs556726946 0.00004
NM_024665.7(TBL1XR1):c.933A>G (p.Ala311=) rs778688857 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.1089C>G (p.Leu363=) rs749108767 0.00001
NM_024665.7(TBL1XR1):c.945T>C (p.Asp315=) rs757159620 0.00001
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg) rs1576994101
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs) rs1715100386
NM_024665.7(TBL1XR1):c.1022C>T (p.Pro341Leu)
NM_024665.7(TBL1XR1):c.1026T>A (p.Ile342=)
NM_024665.7(TBL1XR1):c.1046C>T (p.Thr349Met)
NM_024665.7(TBL1XR1):c.1047+1G>C
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.1048-1G>A rs1576993734
NM_024665.7(TBL1XR1):c.1048-7T>C
NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter) rs2108436501
NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser)
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.1097C>T (p.Ser366Phe) rs2108436373
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) rs1576993654
NM_024665.7(TBL1XR1):c.1104T>G (p.Ser368=)
NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=)
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
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.1122+5T>C
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.937G>A (p.Asp313Asn)
NM_024665.7(TBL1XR1):c.956ACA[1] (p.Asn320del)
NM_024665.7(TBL1XR1):c.959A>C (p.Asn320Thr)
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn)
NM_024665.7(TBL1XR1):c.999C>T (p.Val333=)

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