ClinVar Miner

List of variants reported as likely pathogenic by Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000218.3(KCNQ1):c.1524del (p.Glu508fs) rs1564886349
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

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