ClinVar Miner

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

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Total variants: 39
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HGVS dbSNP gnomAD frequency
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.1813G>A (p.Glu605Lys) rs755167692 0.00006
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.3856A>C (p.Ser1286Arg) rs538251957 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.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.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.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.4571C>A (p.Thr1524Asn)
NM_006922.4(SCN3A):c.4792A>G (p.Ile1598Val) rs1574091364
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) rs1685081916
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.62C>A (p.Ser21Tyr)
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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