ClinVar Miner

List of variants in gene TBX5 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
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.804C>G (p.Ala268=) rs35110399 0.00143
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln) rs115178276 0.00087
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_181486.4(TBX5):c.747A>G (p.Arg249=) rs138552878 0.00051
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_181486.4(TBX5):c.948G>A (p.Glu316=) rs767086503 0.00028
NM_181486.4(TBX5):c.318T>C (p.Ile106=) rs141457646 0.00024
NM_181486.4(TBX5):c.600G>T (p.Ala200=) rs139329918 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_181486.4(TBX5):c.834T>C (p.Ser278=) rs142609815 0.00014
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) rs763827720 0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=) rs186780790 0.00007
NM_181486.4(TBX5):c.1293C>G (p.Thr431=) rs143971376 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.204C>T (p.His68=) rs375854421 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_181486.4(TBX5):c.1443C>T (p.Thr481=) rs137928706 0.00004
NM_181486.4(TBX5):c.15C>T (p.Asp5=) rs767487291 0.00004
NM_181486.4(TBX5):c.576T>C (p.Asn192=) rs201212120 0.00004
NM_181486.4(TBX5):c.639A>G (p.Ala213=) rs149274578 0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 0.00004
NM_181486.4(TBX5):c.1113G>A (p.Glu371=) rs757158327 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.1242C>T (p.Thr414=) rs370133092 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.696T>C (p.Phe232=) rs747652988 0.00003
NM_181486.4(TBX5):c.828C>T (p.Ser276=) rs146908258 0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) rs201637366 0.00003
NM_181486.4(TBX5):c.465C>T (p.Phe155=) rs778977800 0.00002
NM_181486.4(TBX5):c.669G>A (p.Thr223=) rs376519728 0.00002
NM_181486.4(TBX5):c.1302C>T (p.Pro434=) rs1231034401 0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln) rs557758851 0.00001
NM_181486.4(TBX5):c.1413G>A (p.Gly471=) rs764756835 0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=) rs117965596 0.00001
NM_181486.4(TBX5):c.327C>T (p.Ala109=) rs749667596 0.00001
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp) rs186183947 0.00001
NM_181486.4(TBX5):c.768C>T (p.Pro256=) rs370805715 0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met) rs200382742 0.00001
NM_181486.4(TBX5):c.1020G>A (p.Lys340=)
NM_181486.4(TBX5):c.1023C>G (p.Pro341=)
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
NM_181486.4(TBX5):c.1107G>A (p.Arg369=)
NM_181486.4(TBX5):c.111G>A (p.Lys37=)
NM_181486.4(TBX5):c.1157C>A (p.Pro386His) rs771857554
NM_181486.4(TBX5):c.1157C>T (p.Pro386Leu)
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
NM_181486.4(TBX5):c.1200G>A (p.Thr400=)
NM_181486.4(TBX5):c.1206A>G (p.Pro402=) rs763129045
NM_181486.4(TBX5):c.1224C>T (p.Ser408=)
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
NM_181486.4(TBX5):c.1245G>A (p.Val415=)
NM_181486.4(TBX5):c.1296G>A (p.Ser432=) rs149474574
NM_181486.4(TBX5):c.1305G>T (p.Leu435=)
NM_181486.4(TBX5):c.1440C>T (p.Gly480=)
NM_181486.4(TBX5):c.144G>A (p.Gln48=)
NM_181486.4(TBX5):c.1488T>C (p.Thr496=)
NM_181486.4(TBX5):c.150C>T (p.Gly50=)
NM_181486.4(TBX5):c.1518C>T (p.His506=)
NM_181486.4(TBX5):c.174C>A (p.Leu58=)
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
NM_181486.4(TBX5):c.231C>T (p.Thr77=)
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
NM_181486.4(TBX5):c.30G>T (p.Leu10=)
NM_181486.4(TBX5):c.372G>A (p.Thr124=)
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.564G>A (p.Ala188=) rs745378130
NM_181486.4(TBX5):c.564G>T (p.Ala188=)
NM_181486.4(TBX5):c.57A>C (p.Ala19=) rs567785340
NM_181486.4(TBX5):c.600G>A (p.Ala200=)
NM_181486.4(TBX5):c.609T>C (p.Thr203=)
NM_181486.4(TBX5):c.618T>C (p.Phe206=)
NM_181486.4(TBX5):c.627T>C (p.Thr209=)
NM_181486.4(TBX5):c.630G>A (p.Ala210=)
NM_181486.4(TBX5):c.657C>T (p.Asn219=)
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
NM_181486.4(TBX5):c.753A>G (p.Gln251=)
NM_181486.4(TBX5):c.804C>T (p.Ala268=) rs35110399
NM_181486.4(TBX5):c.816T>C (p.Ser272=)
NM_181486.4(TBX5):c.819T>C (p.Pro273=)
NM_181486.4(TBX5):c.849C>T (p.Thr283=)
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.867C>G (p.Ser289=)
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
NM_181486.4(TBX5):c.906G>A (p.Gln302=)
NM_181486.4(TBX5):c.930A>G (p.Pro310=)
NM_181486.4(TBX5):c.936A>G (p.Pro312=)
NM_181486.4(TBX5):c.937C>T (p.Leu313=)
NM_181486.4(TBX5):c.93G>C (p.Ala31=)
NM_181486.4(TBX5):c.93G>T (p.Ala31=)
NM_181486.4(TBX5):c.996C>T (p.Ser332=)
NM_181486.4(TBX5):c.99G>A (p.Gly33=)

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