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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.2357+1G>A	rs111517471	0.00004
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	rs387907267	0.00002
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	rs199472697	0.00001
NM_001005242.3(PKP2):c.14del (p.Gly5fs)	rs397516996
NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)
NM_001270974.2(HYDIN):c.1147C>T (p.Arg383Ter)
NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)
NM_001270974.2(HYDIN):c.1529del (p.Phe510fs)
NM_001270974.2(HYDIN):c.3252dup (p.Val1085fs)
NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)

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