ClinVar Miner

List of variants in gene TBX5 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.*1101A>G rs6489956 0.80110
NM_181486.4(TBX5):c.983-146A>C rs2113433 0.79600
NM_181486.4(TBX5):c.243-324C>T rs1946299 0.72041
NM_181486.4(TBX5):c.-38-255T>C rs2113436 0.68487
NM_181486.4(TBX5):c.663+186A>G rs2236018 0.58134
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_000192.3(TBX5):c.-39+113A>G rs1248046 0.31120
NM_181486.4(TBX5):c.755+94C>A rs2277377 0.25733
NM_181486.4(TBX5):c.983-292A>G rs73201491 0.18971
NM_181486.4(TBX5):c.*77A>G rs28730761 0.07861
NM_181486.4(TBX5):c.148-206A>C rs76448968 0.04732
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_181486.4(TBX5):c.664-161T>C rs16944184 0.03898
NM_181486.4(TBX5):c.243-284T>C rs79492814 0.02260
NM_181486.4(TBX5):c.148-19T>A rs80026530 0.01865
NM_181486.4(TBX5):c.*384T>C rs12426660 0.01798
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_181486.4(TBX5):c.*812C>T rs143511878 0.01571
NM_181486.4(TBX5):c.*40A>G rs10850326 0.01186
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_181486.4(TBX5):c.663+34C>T rs114389588 0.00446
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile) rs114124210 0.00301
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_181486.4(TBX5):c.*739T>C rs117414057 0.00037
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_181486.4(TBX5):c.*97G>A rs883079
NM_181486.4(TBX5):c.141C>T (p.Thr47=) rs564730479
NM_181486.4(TBX5):c.244C>A (p.Arg82=) rs1871673360
NM_181486.4(TBX5):c.362+84dup rs55980450
NM_181486.4(TBX5):c.362+98del rs55980450
NM_181486.4(TBX5):c.664-287_664-286dup rs35970834
NM_181486.4(TBX5):c.664-287dup rs35970834
NM_181486.4(TBX5):c.982+320_982+321dup rs56315440
NM_181486.4(TBX5):c.982+320dup rs56315440
NM_181486.4(TBX5):c.982+329_982+335del rs56315440
NM_181486.4(TBX5):c.982+335del rs56315440

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.