ClinVar Miner

List of variants reported as likely pathogenic by Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_001364171.2(ODAD1):c.358C>T (p.Gln120Ter) rs1179449592 0.00001
NM_000295.5(SERPINA1):c.250_257dup (p.Met87fs)
NM_000492.4(CFTR):c.4345_*486delinsTTG (p.Phe1450_Ter1481del)
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001042492.3(NF1):c.2325+3A>T
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
NM_001277115.2(DNAH11):c.3545_3551delinsAGATGATGAACTGTAGCTGTAAGA (p.Arg1182fs)
NM_001458.5(FLNC):c.850+1G>T rs1808146842
NM_002181.4(IHH):c.446G>A (p.Arg149His)
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
NM_005359.6(SMAD4):c.585C>A (p.Tyr195Ter)
NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)
NM_033380.3(COL4A5):c.1894G>A (p.Gly632Ser)

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