ClinVar Miner

List of variants reported as likely pathogenic by Xu Lab, Pediatric Cardiology, Xinhua Hospital, affiliated to Shanghai Jiao Tong University School of Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003923.3(FOXH1):c.205T>C (p.Phe69Leu) rs1312980498 0.00001
NM_003923.3(FOXH1):c.277A>G (p.Lys93Glu) rs1379104498 0.00001
NM_003923.3(FOXH1):c.104C>G (p.Pro35Arg) rs1341550325
NM_003923.3(FOXH1):c.206T>C (p.Phe69Ser) rs1825112515
NM_003923.3(FOXH1):c.209T>C (p.Phe70Ser) rs1825112395
NM_003923.3(FOXH1):c.232A>G (p.Lys78Glu) rs143221196
NM_003923.3(FOXH1):c.493G>C (p.Glu165Gln) rs1564752095

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