List of variants reported as pathogenic for progressive familial heart block, type 1A by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	rs199473072	0.00009
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)	rs757532106	0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	rs199473101	0.00003
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)	rs199473097	0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	rs45546039	0.00001
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)	rs397514450
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	rs137854612
NM_000335.5(SCN5A):c.4242+1G>C	rs794728879
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	rs137854613
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)	rs1060501127
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)	rs794728849

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