ClinVar Miner

List of variants in gene TBX20 studied for atrial septal defect 4

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_001077653.2(TBX20):c.545+13A>G rs17675148 0.36511
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_001077653.2(TBX20):c.546-8T>A rs191362319 0.00018
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His) rs375484585 0.00014
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile) rs776152314 0.00011
NM_001077653.2(TBX20):c.418G>A (p.Val140Met) rs766745923 0.00009
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr) rs151183955 0.00006
NM_001077653.2(TBX20):c.426T>C (p.Pro142=) rs373924069 0.00005
NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys) rs13237089 0.00005
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met) rs747369702 0.00003
NM_001077653.2(TBX20):c.1036C>G (p.Leu346Val) rs768158277 0.00002
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser) rs748900621 0.00001
NM_001077653.2(TBX20):c.395C>T (p.Thr132Ile) rs200630726 0.00001
NM_001077653.2(TBX20):c.413C>T (p.Ser138Leu) rs778902854 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr) rs370219446 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_001077653.2(TBX20):c.-517C>T rs483353001
NM_001077653.2(TBX20):c.1003+129T>C rs483353008
NM_001077653.2(TBX20):c.1003+99C>T rs483353007
NM_001077653.2(TBX20):c.1108A>C (p.Thr370Pro) rs483352998
NM_001077653.2(TBX20):c.1124T>C (p.Ile375Thr)
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) rs1562569196
NM_001077653.2(TBX20):c.1184T>G (p.Met395Arg) rs483352999
NM_001077653.2(TBX20):c.1189C>T (p.Leu397=) rs483353003
NM_001077653.2(TBX20):c.1356A>T rs483353000
NM_001077653.2(TBX20):c.1357T>A rs483353004
NM_001077653.2(TBX20):c.1392T>A rs483353005
NM_001077653.2(TBX20):c.363C>G (p.Ile121Met) rs267607106
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) rs766692577
NM_001077653.2(TBX20):c.546-1224dup rs483353006
NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) rs137852955
NM_001077653.2(TBX20):c.654+1G>C
NM_001077653.2(TBX20):c.655-18C>T rs483353009
NM_001077653.2(TBX20):c.655-44G>A rs2072434
NM_001077653.2(TBX20):c.657A>C (p.Ile219=) rs483353002
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) rs1554286367
NM_001077653.2(TBX20):c.925T>G (p.Tyr309Asp) rs111862418

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