ClinVar Miner

List of variants in gene TBX18 reported as benign for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001080508.3(TBX18):c.1005-256T>C rs858741 0.88023
NM_001080508.3(TBX18):c.771+130T>G rs215939 0.69040
NM_001080508.3(TBX18):c.1004+197G>A rs2015519 0.58685
NM_001080508.3(TBX18):c.1099+112G>A rs761391 0.45149
NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg) rs172562 0.38125
NM_001080508.3(TBX18):c.940-228G>C rs2273096 0.13224
NM_001080508.3(TBX18):c.498-26C>G rs74671789 0.12059
NM_001080508.3(TBX18):c.498-50A>T rs78065813 0.12047
NM_001080508.3(TBX18):c.1004+75dup rs142451743 0.05147
NM_001080508.3(TBX18):c.599+172G>A rs74497017 0.05064
NM_001080508.3(TBX18):c.336G>T (p.Ala112=) rs188296060 0.00365
NM_001080508.3(TBX18):c.128C>T (p.Ala43Val) rs375648531 0.00151
NM_001080508.3(TBX18):c.1470G>A (p.Ser490=) rs139629340 0.00057
NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg) rs200742037 0.00007
NM_001080508.3(TBX18):c.750T>C (p.Asn250=) rs558712179 0.00006
NM_001080508.3(TBX18):c.1004+214C>G rs2015518
NM_001080508.3(TBX18):c.244_255dup (p.Thr82_Pro85dup) rs554987935
NM_001080508.3(TBX18):c.492C>T (p.Ala164=) rs114255455
NM_001080508.3(TBX18):c.497+17C>G
NM_001080508.3(TBX18):c.498-15C>T
NM_001080508.3(TBX18):c.600-20G>C rs117602481
NM_001080508.3(TBX18):c.939+256_939+257insATG rs34579639

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