ClinVar Miner

List of variants in gene SCN8A reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_001330260.2(SCN8A):c.3321C>T (p.Asn1107=) rs374213514 0.00050
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001330260.2(SCN8A):c.5514C>T (p.Ser1838=) rs372388512 0.00045
NM_001330260.2(SCN8A):c.2109T>C (p.Val703=) rs369029348 0.00033
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451 0.00029
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.4969C>T (p.Leu1657=) rs374755275 0.00023
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001330260.2(SCN8A):c.751C>T (p.Leu251=) rs200307006 0.00022
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001330260.2(SCN8A):c.5619C>T (p.Phe1873=) rs372752853 0.00016
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro) rs371766742 0.00016
NM_001330260.2(SCN8A):c.3582C>T (p.Ile1194=) rs756909923 0.00013
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=) rs376759643 0.00011
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221 0.00011
NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=) rs201402959 0.00006
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=) rs376749872 0.00006
NM_001330260.2(SCN8A):c.3966C>T (p.Gly1322=) rs775267842 0.00006
NM_001330260.2(SCN8A):c.858A>T (p.Ile286=) rs370911858 0.00006
NM_001330260.2(SCN8A):c.*5G>A rs747815156 0.00005
NM_014191.4(SCN8A):c.657A>G (p.Leu219=) rs773009820 0.00005
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001330260.2(SCN8A):c.3090G>A (p.Glu1030=) rs1057523246 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001330260.2(SCN8A):c.867C>T (p.Asn289=) rs375801783 0.00004
NM_001330260.2(SCN8A):c.3272A>G (p.Asn1091Ser) rs558738676 0.00003
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001330260.2(SCN8A):c.4446C>T (p.Thr1482=) rs374059983 0.00003
NM_001330260.2(SCN8A):c.5271C>T (p.Val1757=) rs752174650 0.00003
NM_001330260.2(SCN8A):c.5580G>A (p.Gly1860=) rs201484402 0.00003
NM_001330260.2(SCN8A):c.1350G>A (p.Ala450=) rs779130227 0.00002
NM_001330260.2(SCN8A):c.1818G>C (p.Arg606=) rs777424314 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001330260.2(SCN8A):c.3219C>T (p.Ser1073=) rs771098374 0.00002
NM_001330260.2(SCN8A):c.3528C>T (p.Ile1176=) rs369453843 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.2160G>A (p.Pro720=) rs967922373 0.00001
NM_001330260.2(SCN8A):c.3048C>T (p.His1016=) rs777076650 0.00001
NM_001330260.2(SCN8A):c.3150T>G (p.Gly1050=) rs552307188 0.00001
NM_001330260.2(SCN8A):c.324C>T (p.Ala108=) rs146485624 0.00001
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930 0.00001
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=) rs768214178 0.00001
NM_001330260.2(SCN8A):c.4899C>T (p.Gly1633=) rs762240754 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.579A>G (p.Pro193=) rs755900174 0.00001
NM_001330260.2(SCN8A):c.5883A>G (p.Ala1961=) rs750830277 0.00001
NM_001330260.2(SCN8A):c.726T>A (p.Gly242=) rs779319824 0.00001
NM_001330260.2(SCN8A):c.1188T>C (p.Phe396=) rs1565893656
NM_001330260.2(SCN8A):c.1212C>T (p.Asn404=) rs1565893673
NM_001330260.2(SCN8A):c.1717C>A (p.Arg573=) rs370074236
NM_001330260.2(SCN8A):c.1731G>C (p.Pro577=)
NM_001330260.2(SCN8A):c.1824C>T (p.Arg608=) rs756753738
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1846GGCTACAGC[3] (p.616GYS[3]) rs758276968
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.285A>G (p.Val95=)
NM_001330260.2(SCN8A):c.289T>C (p.Leu97=) rs1565885975
NM_001330260.2(SCN8A):c.3444G>T (p.Val1148=)
NM_001330260.2(SCN8A):c.3705T>C (p.Ala1235=) rs954831801
NM_001330260.2(SCN8A):c.3834C>T (p.Ser1278=) rs1937892046
NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)
NM_001330260.2(SCN8A):c.4551T>C (p.Asp1517=) rs1565929057
NM_001330260.2(SCN8A):c.4725G>T (p.Ala1575=)
NM_001330260.2(SCN8A):c.477G>A (p.Lys159=)
NM_001330260.2(SCN8A):c.4842C>T (p.Thr1614=) rs2138942278
NM_001330260.2(SCN8A):c.5421G>A (p.Lys1807=) rs1938717343
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953

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