ClinVar Miner

List of variants reported as likely benign for Holt-Oram syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
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_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser) rs760334883 0.00001
NM_181486.4(TBX5):c.*1477_*1480del rs564562667
NM_181486.4(TBX5):c.*836A>C rs537303672

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