ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by Mendelics

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
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.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) rs1574168611
NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs) rs2105793286
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) rs1574069132
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) rs1574052179
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) rs796053000
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg) rs2105570237
NM_001165963.4(SCN1A):c.4003-14C>T rs1241008825
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln) rs794726821
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4284+2del rs2105507548
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs) rs2105475986
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) rs1573963975
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr) rs2105433731
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser) rs2105431458
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) rs1573949198
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs) rs2105429397
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr) rs121918748
NM_001165963.4(SCN1A):c.5531C>T (p.Pro1844Leu) rs2105426648
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr) rs1689190343
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs) rs2105424093
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415

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