ClinVar Miner

List of variants reported as likely pathogenic by RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust

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Total variants: 6
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NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_176869.3(PPA2):c.182C>T (p.Ser61Phe) rs772083375
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647
NM_181798.1(KCNQ1):c.1143del (p.Glu381fs) rs1564886349

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