ClinVar Miner

List of variants in gene SCN8A studied for History of neurodevelopmental disorder

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Total variants: 54
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HGVS dbSNP
NM_014191.4(SCN8A):c.*5G>A
NM_014191.4(SCN8A):c.1188T>C (p.Phe396=) rs1565893656
NM_014191.4(SCN8A):c.1212C>T (p.Asn404=) rs1565893673
NM_014191.4(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.4(SCN8A):c.1350G>A (p.Ala450=)
NM_014191.4(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_014191.4(SCN8A):c.1474C>T (p.Arg492Cys)
NM_014191.4(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.4(SCN8A):c.1577G>A (p.Arg526Lys)
NM_014191.4(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.4(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.4(SCN8A):c.1837A>G (p.Ser613Gly)
NM_014191.4(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) rs758276968
NM_014191.4(SCN8A):c.1999-5del rs769940455
NM_014191.4(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_014191.4(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_014191.4(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.4(SCN8A):c.2109T>C (p.Val703=) rs369029348
NM_014191.4(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_014191.4(SCN8A):c.2493A>T (p.Glu831Asp) rs1565915374
NM_014191.4(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.4(SCN8A):c.289T>C (p.Leu97=) rs1565885975
NM_014191.4(SCN8A):c.3048C>T (p.His1016=)
NM_014191.4(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.4(SCN8A):c.324C>T (p.Ala108=) rs146485624
NM_014191.4(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930
NM_014191.4(SCN8A):c.3705T>C (p.Ala1235=)
NM_014191.4(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.4(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.4(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_014191.4(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_014191.4(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_014191.4(SCN8A):c.4446C>T (p.Thr1482=) rs374059983
NM_014191.4(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.4(SCN8A):c.4551T>C (p.Asp1517=) rs1565929057
NM_014191.4(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.4(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_014191.4(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.4(SCN8A):c.4899C>T (p.Gly1633=)
NM_014191.4(SCN8A):c.4969C>T (p.Leu1657=) rs374755275
NM_014191.4(SCN8A):c.5271C>T (p.Val1757=) rs752174650
NM_014191.4(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_014191.4(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.4(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.4(SCN8A):c.5619C>T (p.Phe1873=)
NM_014191.4(SCN8A):c.5656A>G (p.Ile1886Val) rs1411587460
NM_014191.4(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.4(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.4(SCN8A):c.579A>G (p.Pro193=) rs755900174
NM_014191.4(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315
NM_014191.4(SCN8A):c.5883A>G (p.Ala1961=)
NM_014191.4(SCN8A):c.5943_*2GAG[1] (p.Ter1981=) rs555793953
NM_014191.4(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014191.4(SCN8A):c.858A>T (p.Ile286=) rs370911858

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