ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as benign for not provided

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3551-192T>C rs568376 0.99676
NM_001165963.4(SCN1A):c.*721A>G rs4667859 0.99675
NM_001165963.4(SCN1A):c.*1739C>T rs1813502 0.70050
NM_001165963.4(SCN1A):c.3429+110T>A rs114707732 0.69761
NM_001165963.4(SCN1A):c.3550+212G>T rs577306 0.26364
NM_001165963.4(SCN1A):c.3429+212T>C rs11691603 0.26022
NM_001165963.4(SCN1A):c.4853-223dup rs34871628 0.24515
NM_001165963.4(SCN1A):c.3551-246C>G rs10207252 0.15493
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_001165963.4(SCN1A):c.4853-142A>T rs6754638 0.08458
NM_001165963.4(SCN1A):c.4477-338T>A rs17791817 0.06433
NM_001165963.4(SCN1A):c.4853-271T>C rs16851338 0.06306
NM_001165963.4(SCN1A):c.3429+108T>A rs538930553 0.04901
NM_001165963.4(SCN1A):c.4284+179A>T rs72871938 0.04355
NM_001165963.4(SCN1A):c.*1693A>G rs7591522 0.03977
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_001165963.4(SCN1A):c.4003-69T>C rs1350798 0.03624
NM_001165963.4(SCN1A):c.3429+216C>G rs74440143 0.01668
NM_001165963.4(SCN1A):c.3705+55C>G rs76220226 0.01372
NM_001165963.4(SCN1A):c.3705+33T>G rs76743139 0.00915
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.*677G>A rs142037381 0.00181
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=) rs142019382 0.00078
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) rs760181074 0.00004
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=) rs1176622466 0.00003
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.3429+109_3429+113del rs34673057
NM_001165963.4(SCN1A):c.3429+111_3429+113del rs34673057
NM_001165963.4(SCN1A):c.3880-305del rs146427393
NM_001165963.4(SCN1A):c.3880-338T>C rs72871943
NM_001165963.4(SCN1A):c.4002+2651dup rs560882795
NM_001165963.4(SCN1A):c.4003-168dup rs139683811
NM_001165963.4(SCN1A):c.4003-320_4003-319insAAAC rs10654011
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=) rs1573984787
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.4581+173_4581+176del rs138116101
NM_001165963.4(SCN1A):c.4582-110C>T rs75721122
NM_001165963.4(SCN1A):c.4582-262GTTT[5] rs140431192
NM_001165963.4(SCN1A):c.4582-262GTTT[6] rs140431192
NM_001165963.4(SCN1A):c.4582-262GTTT[8] rs140431192
NM_001165963.4(SCN1A):c.4582-262GTTT[9] rs140431192

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