ClinVar Miner

List of variants in gene SCN5A reported as likely benign for Progressive familial heart block

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_000335.4(SCN5A):c.*1165C>T rs41313017
NM_000335.4(SCN5A):c.*123A>G rs7429945
NM_000335.4(SCN5A):c.*1453dup rs397763929
NM_000335.4(SCN5A):c.*1537T>C rs41315485
NM_000335.4(SCN5A):c.*159C>T rs41313019
NM_000335.4(SCN5A):c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG rs45592631
NM_000335.4(SCN5A):c.*753C>T rs41310757
NM_000335.4(SCN5A):c.*962T>A rs4073797
NM_000335.4(SCN5A):c.*963C>T rs4073796
NM_000335.4(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_000335.4(SCN5A):c.1141-3C>A rs41312433
NM_000335.4(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_000335.4(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5454T>C (p.Asp1818=) rs1805126
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.87A>G (p.Ala29=) rs6599230

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