ClinVar Miner

List of variants in gene SCN5A reported as benign by Ambry Genetics

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_000335.5(SCN5A):c.482+16G>C rs41312949 0.01894
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493

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