ClinVar Miner

List of variants in gene SCN5A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=) rs41311121 0.00016
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.3537G>A (p.Ala1179=) rs370990219 0.00007
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=) rs764488677 0.00004
NM_000335.5(SCN5A):c.192G>T (p.Leu64=) rs372406427 0.00004
NM_000335.5(SCN5A):c.3993G>A (p.Pro1331=) rs775789293 0.00004
NM_000335.5(SCN5A):c.4977C>T (p.Ile1659=) rs752079563 0.00004
NM_000335.5(SCN5A):c.1188C>T (p.Val396=) rs749683415 0.00003
NM_000335.5(SCN5A):c.801C>T (p.Ile267=) rs45587735 0.00003
NM_000335.5(SCN5A):c.1944G>A (p.Pro648=) rs773792853 0.00002
NM_000335.5(SCN5A):c.3984C>T (p.Gly1328=) rs761384669 0.00002
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678 0.00002
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.1653G>A (p.Ala551=) rs397517952
NM_000335.5(SCN5A):c.2481A>C (p.Thr827=)
NM_000335.5(SCN5A):c.3921C>G (p.Leu1307=) rs2125844002
NM_000335.5(SCN5A):c.4422A>G (p.Gln1474=) rs2125835217
NM_000335.5(SCN5A):c.5262C>T (p.Tyr1754=) rs2125826119

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