ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu) rs199473078 0.00004
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864 0.00001
NM_000335.5(SCN5A):c.3647T>G (p.Leu1216Arg) rs794728876 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile) rs794728895 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) rs199473635 0.00001
NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly) rs766751878 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1816del (p.Ala606fs) rs2125901090
NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter) rs1064795085
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His) rs199473587
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.273+1G>A rs1057524447
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3650G>T (p.Ser1217Ile) rs1350817503
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys) rs199473204
NM_000335.5(SCN5A):c.393-2A>G rs1312714061
NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs) rs1575728590
NM_000335.5(SCN5A):c.3992C>G (p.Pro1331Arg) rs199473225
NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs) rs1553695398
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4191del (p.Val1399fs) rs1064796233
NM_000335.5(SCN5A):c.4242+2T>A rs794728880
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.5(SCN5A):c.4336T>C (p.Tyr1446His) rs1064793326
NM_000335.5(SCN5A):c.4343A>G (p.Tyr1448Cys) rs199473613
NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu) rs1057523393
NM_000335.5(SCN5A):c.4421A>T (p.Gln1474Leu) rs794728885
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4481A>C (p.Tyr1494Ser) rs199473262
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro) rs374557801
NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu) rs374557801
NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val) rs794728889
NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val) rs794728890
NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr) rs750013499
NM_000335.5(SCN5A):c.5069T>C (p.Met1690Thr) rs794728891
NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter) rs1085307710
NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr) rs794728892
NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly) rs199473628
NM_000335.5(SCN5A):c.5187del (p.Thr1730fs) rs1085307527
NM_000335.5(SCN5A):c.5282del (p.Ile1761fs) rs886039455
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs)
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs) rs1064794424
NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) rs199473324
NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys) rs794728900
NM_000335.5(SCN5A):c.5822_5823del (p.Pro1941fs) rs1553692416
NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp) rs2125914363
NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly) rs794728849
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082

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