ClinVar Miner

List of variants in gene SCN3A studied for Inborn genetic diseases

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe) rs147678484 0.00112
NM_006922.4(SCN3A):c.3689T>C (p.Ile1230Thr) rs146060800 0.00023
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg) rs143763998 0.00020
NM_006922.4(SCN3A):c.956T>C (p.Ile319Thr) rs369361605 0.00018
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_006922.4(SCN3A):c.5425G>A (p.Glu1809Lys) rs370463938 0.00016
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His) rs765013479 0.00010
NM_006922.4(SCN3A):c.5483A>G (p.Lys1828Arg) rs143406452 0.00009
NM_006922.4(SCN3A):c.5726G>A (p.Arg1909His) rs376113629 0.00007
NM_006922.4(SCN3A):c.1400C>T (p.Ala467Val) rs761990576 0.00006
NM_006922.4(SCN3A):c.5713G>A (p.Ala1905Thr) rs367631757 0.00006
NM_006922.4(SCN3A):c.1348G>A (p.Glu450Lys) rs777791237 0.00004
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00004
NM_006922.4(SCN3A):c.76G>A (p.Glu26Lys) rs141705204 0.00004
NM_006922.4(SCN3A):c.3478G>A (p.Glu1160Lys) rs377632429 0.00003
NM_006922.4(SCN3A):c.551C>T (p.Thr184Met) rs200410949 0.00003
NM_006922.4(SCN3A):c.1205T>C (p.Ile402Thr) rs750026037 0.00002
NM_006922.4(SCN3A):c.850G>A (p.Asp284Asn) rs142323631 0.00002
NM_006922.4(SCN3A):c.152C>T (p.Pro51Leu) rs1399602856 0.00001
NM_006922.4(SCN3A):c.3256G>A (p.Asp1086Asn) rs149911613 0.00001
NM_006922.4(SCN3A):c.4535C>A (p.Ala1512Glu) rs1279700412 0.00001
NM_006922.4(SCN3A):c.4924C>T (p.Arg1642Cys) rs1312429782 0.00001
NM_006922.4(SCN3A):c.5589G>C (p.Glu1863Asp) rs200922494 0.00001
NM_006922.4(SCN3A):c.55A>G (p.Arg19Gly) rs765781930 0.00001
NM_006922.4(SCN3A):c.847A>G (p.Ser283Gly) rs369051978 0.00001
NM_006922.4(SCN3A):c.123A>C (p.Gln41His)
NM_006922.4(SCN3A):c.1318C>T (p.Gln440Ter) rs797044933
NM_006922.4(SCN3A):c.1376C>A (p.Ala459Asp)
NM_006922.4(SCN3A):c.1642A>G (p.Ser548Gly)
NM_006922.4(SCN3A):c.1799C>T (p.Thr600Ile)
NM_006922.4(SCN3A):c.1810A>G (p.Ser604Gly)
NM_006922.4(SCN3A):c.2381T>C (p.Val794Ala)
NM_006922.4(SCN3A):c.2641G>A (p.Ala881Thr)
NM_006922.4(SCN3A):c.277A>G (p.Met93Val)
NM_006922.4(SCN3A):c.3103A>C (p.Lys1035Gln)
NM_006922.4(SCN3A):c.3435T>G (p.Asp1145Glu) rs1686329652
NM_006922.4(SCN3A):c.3480AGA[1] (p.Glu1161del) rs1553520243
NM_006922.4(SCN3A):c.3706A>G (p.Ile1236Val)
NM_006922.4(SCN3A):c.3712A>G (p.Thr1238Ala)
NM_006922.4(SCN3A):c.3734A>C (p.Lys1245Thr)
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006922.4(SCN3A):c.5476A>T (p.Ile1826Leu)
NM_006922.4(SCN3A):c.5499G>C (p.Gln1833His)
NM_006922.4(SCN3A):c.5678C>A (p.Thr1893Asn)
NM_006922.4(SCN3A):c.5801G>A (p.Gly1934Glu)
NM_006922.4(SCN3A):c.586A>G (p.Ser196Gly)
NM_006922.4(SCN3A):c.603-104C>T
NM_006922.4(SCN3A):c.603-92G>A
NM_006922.4(SCN3A):c.919A>C (p.Asn307His) rs2105889934

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