ClinVar Miner

List of variants in gene SCN8A reported as not provided

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791 0.00001
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val) rs1029149299 0.00001
NM_001330260.2(SCN8A):c.1122C>G (p.Asn374Lys) rs2540179223
NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe) rs879255698
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2464G>A (p.Gly822Arg) rs1555225498
NM_001330260.2(SCN8A):c.2519T>C (p.Leu840Pro) rs878854974
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.4079C>A (p.Thr1360Asn) rs2138904306
NM_001330260.2(SCN8A):c.4079_4080delinsGG (p.Thr1360Arg) rs2540302170
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.417G>C (p.Met139Ile) rs1565886685
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys) rs1938703307
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.4961T>A (p.Ile1654Asn) rs2540333905
NM_001330260.2(SCN8A):c.5156C>G (p.Pro1719Arg) rs1565934070
NM_001330260.2(SCN8A):c.5273T>C (p.Val1758Ala) rs2540334607
NM_001330260.2(SCN8A):c.5280G>C (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5359A>C (p.Thr1787Pro) rs2540334912
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_001330260.2(SCN8A):c.805G>A (p.Gly269Arg) rs1555218644
NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser) rs879255693
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp) rs879255696
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.667_668delinsCA (p.Arg223Gln) rs2540158691

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