ClinVar Miner

List of variants in gene SCN3A reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.552G>A (p.Thr184=) rs116682517 0.00839
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_006922.4(SCN3A):c.1380+12T>C rs146105464 0.00125
NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe) rs147678484 0.00112
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=) rs72870766 0.00072
NM_006922.4(SCN3A):c.44G>A (p.Arg15His) rs139769668 0.00064
NM_006922.4(SCN3A):c.5658C>T (p.Val1886=) rs141161490 0.00063
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00042
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492 0.00032
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg) rs143763998 0.00020
NM_006922.4(SCN3A):c.4153C>G (p.Gln1385Glu) rs534313591 0.00019
NM_006922.4(SCN3A):c.5458C>T (p.Leu1820=) rs150299378 0.00019
NM_006922.4(SCN3A):c.68C>T (p.Ala23Val) rs139585434 0.00017
NM_006922.4(SCN3A):c.1687C>T (p.Arg563Cys) rs202004044 0.00015
NM_006922.4(SCN3A):c.2181G>A (p.Pro727=) rs138350988 0.00015
NM_006922.4(SCN3A):c.207T>A (p.Pro69=) rs754282083 0.00013
NM_006922.4(SCN3A):c.429A>T (p.Val143=) rs149212247 0.00011
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His) rs765013479 0.00010
NM_006922.4(SCN3A):c.2449T>C (p.Tyr817His) rs377309807 0.00009
NM_006922.4(SCN3A):c.3589A>G (p.Lys1197Glu) rs530839611 0.00008
NM_006922.4(SCN3A):c.3495G>A (p.Pro1165=) rs747790337 0.00007
NM_006922.4(SCN3A):c.1662C>T (p.Ser554=) rs760885665 0.00006
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys) rs755167692 0.00006
NM_006922.4(SCN3A):c.4113C>T (p.Asn1371=) rs143550352 0.00006
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_006922.4(SCN3A):c.240G>A (p.Leu80=) rs567399167 0.00005
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu) rs776260027 0.00004
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln) rs747726149 0.00003
NM_006922.4(SCN3A):c.1991C>T (p.Thr664Met) rs201168906 0.00003
NM_006922.4(SCN3A):c.551C>T (p.Thr184Met) rs200410949 0.00003
NM_006922.4(SCN3A):c.2019+8T>C rs1159326316 0.00002
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=) rs767052591 0.00002
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412 0.00002
NM_006922.4(SCN3A):c.1732T>C (p.Phe578Leu) rs774982624 0.00001
NM_006922.4(SCN3A):c.180C>A (p.Asn60Lys) rs778352249 0.00001
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val) rs764003738 0.00001
NM_006922.4(SCN3A):c.3477C>T (p.Pro1159=) rs147316838 0.00001
NM_006922.4(SCN3A):c.3856A>C (p.Ser1286Arg) rs538251957 0.00001
NM_006922.4(SCN3A):c.4926C>T (p.Arg1642=) rs1427597215 0.00001
NM_006922.4(SCN3A):c.4974C>T (p.Ile1658=) rs765449159 0.00001
NM_006922.4(SCN3A):c.5689C>T (p.Arg1897Cys) rs781506035 0.00001
NM_006922.4(SCN3A):c.1000C>G (p.Pro334Ala) rs1170404015
NM_006922.4(SCN3A):c.1215C>T (p.Val405=) rs764796283
NM_006922.4(SCN3A):c.1470G>A (p.Lys490=)
NM_006922.4(SCN3A):c.1617C>T (p.Phe539=)
NM_006922.4(SCN3A):c.1901T>G (p.Met634Arg) rs202068163
NM_006922.4(SCN3A):c.1970T>C (p.Val657Ala) rs922985729
NM_006922.4(SCN3A):c.2560A>C (p.Arg854=) rs1278301329
NM_006922.4(SCN3A):c.2657C>T (p.Thr886Ile) rs2105772651
NM_006922.4(SCN3A):c.3088T>G (p.Phe1030Val)
NM_006922.4(SCN3A):c.3350C>A (p.Thr1117Asn) rs767706892
NM_006922.4(SCN3A):c.3417T>C (p.Ser1139=)
NM_006922.4(SCN3A):c.3581A>G (p.Asn1194Ser) rs1559194563
NM_006922.4(SCN3A):c.3586C>T (p.Arg1196Ter) rs1553520070
NM_006922.4(SCN3A):c.3778G>C (p.Val1260Leu) rs1686189902
NM_006922.4(SCN3A):c.3823C>T (p.Leu1275=) rs1686188401
NM_006922.4(SCN3A):c.4054A>G (p.Met1352Val)
NM_006922.4(SCN3A):c.4163G>C (p.Gly1388Ala) rs1685405474
NM_006922.4(SCN3A):c.4168C>G (p.Gln1390Glu)
NM_006922.4(SCN3A):c.4174C>T (p.Arg1392Trp) rs775485970
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg) rs755159935
NM_006922.4(SCN3A):c.4571C>A (p.Thr1524Asn)
NM_006922.4(SCN3A):c.4792A>G (p.Ile1598Val) rs1574091364
NM_006922.4(SCN3A):c.4848C>G (p.Ser1616=) rs2105622078
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) rs1685081916
NM_006922.4(SCN3A):c.5034C>T (p.Ala1678=)
NM_006922.4(SCN3A):c.5073C>A (p.Asn1691Lys)
NM_006922.4(SCN3A):c.5741_5743delinsTTT (p.Tyr1914_Leu1915delinsPhePhe)
NM_006922.4(SCN3A):c.5800G>A (p.Gly1934Arg) rs2105616547
NM_006922.4(SCN3A):c.603-115G>A
NM_006922.4(SCN3A):c.603-153G>A
NM_006922.4(SCN3A):c.62C>A (p.Ser21Tyr)
NM_006922.4(SCN3A):c.740T>C (p.Leu247Pro) rs1689488709
NM_006922.4(SCN3A):c.791T>C (p.Ile264Thr) rs768747448
NM_006922.4(SCN3A):c.849C>G (p.Ser283Arg) rs747954941
NM_006922.4(SCN3A):c.895A>G (p.Met299Val)
NM_006922.4(SCN3A):c.95A>G (p.Glu32Gly) rs1553539508

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