ClinVar Miner

List of variants in gene TBX5 reported as uncertain significance for Holt-Oram syndrome

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000192.3(TBX5):c.-481T>C rs575879858 0.00277
NM_000192.3(TBX5):c.-255G>T rs186472610 0.00100
NM_181486.4(TBX5):c.*795G>T rs886048991 0.00016
NM_181486.4(TBX5):c.*1446T>G rs576867150 0.00014
NM_181486.4(TBX5):c.77C>T (p.Ser26Leu) rs1085307848 0.00010
NM_181486.4(TBX5):c.*1344G>A rs1332937417 0.00009
NM_181486.4(TBX5):c.*1511G>A rs886048983 0.00009
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) rs763827720 0.00007
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_000192.3(TBX5):c.-132G>A rs1280865262 0.00005
NM_181486.4(TBX5):c.*1071C>T rs890525823 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_181486.4(TBX5):c.*702T>C rs759107305 0.00004
NM_181486.4(TBX5):c.*875A>C rs886048987 0.00004
NM_181486.4(TBX5):c.*277C>T rs886048995 0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.618T>G (p.Phe206Leu) rs533581420 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_000192.3(TBX5):c.-403G>C rs985905532 0.00002
NM_181486.4(TBX5):c.*1111T>C rs886048985 0.00002
NM_000192.3(TBX5):c.-153T>G rs1872328985 0.00001
NM_000192.3(TBX5):c.-503C>T rs893809666 0.00001
NM_181486.4(TBX5):c.*129A>G rs28730760 0.00001
NM_181486.4(TBX5):c.*147T>C rs886048996 0.00001
NM_181486.4(TBX5):c.*718G>A rs886048993 0.00001
NM_181486.4(TBX5):c.456C>T (p.Leu152=) rs775748269 0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu) rs1479545982 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_000192.3(TBX5):c.-107T>C rs947021363
NM_000192.3(TBX5):c.-347C>G rs886049000
NM_000192.3(TBX5):c.-42G>A rs1287268402
NM_000192.3(TBX5):c.-487G>A rs1872352803
NM_000192.3(TBX5):c.-637G>A rs886049001
NM_181486.4(TBX5):c.*1196T>C rs886048984
NM_181486.4(TBX5):c.*1548C>T rs1868723623
NM_181486.4(TBX5):c.*439T>A rs1868799935
NM_181486.4(TBX5):c.*545C>G rs886048994
NM_181486.4(TBX5):c.*717C>T rs148346089
NM_181486.4(TBX5):c.*755_*759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG rs886048992
NM_181486.4(TBX5):c.*806C>G rs886048990
NM_181486.4(TBX5):c.*852C>T rs886048989
NM_181486.4(TBX5):c.*856T>A rs886048988
NM_181486.4(TBX5):c.*926T>C rs886048986
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu) rs759607221
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile) rs971831243
NM_181486.4(TBX5):c.13G>A (p.Asp5Asn) rs886048999
NM_181486.4(TBX5):c.174C>T (p.Leu58=) rs886048998
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.254C>T (p.Pro85Leu) rs1565941576
NM_181486.4(TBX5):c.372G>C (p.Thr124=) rs778117002
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.454C>G (p.Leu152Val) rs2136416738
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.520A>G (p.Asn174Asp) rs1565939347
NM_181486.4(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.585C>T (p.Gly195=) rs753457483
NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
NM_181486.4(TBX5):c.663+4A>T
NM_181486.4(TBX5):c.664-11C>T rs771400478
NM_181486.4(TBX5):c.694T>G (p.Phe232Val) rs1565935405
NM_181486.4(TBX5):c.846C>T (p.Ser282=) rs886048997

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