ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by GeneDx

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Total variants: 68
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HGVS dbSNP
NM_006920.6(SCN1A):c.3065T>C (p.Phe1022Ser) rs796052992
NM_006920.6(SCN1A):c.3088A>G (p.Lys1030Glu) rs376649518
NM_006920.6(SCN1A):c.3095A>T (p.Lys1032Met) rs1553540334
NM_006920.6(SCN1A):c.3132_3134CAA[1] (p.Asn1045del) rs796053069
NM_006920.6(SCN1A):c.3143A>T (p.Asp1048Val) rs779306054
NM_006920.6(SCN1A):c.3187G>A (p.Asp1063Asn) rs751514645
NM_006920.6(SCN1A):c.3322G>A (p.Val1108Ile) rs774410570
NM_006920.6(SCN1A):c.3372A>G (p.Glu1124=) rs796052954
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.3523G>T (p.Val1175Leu) rs780607306
NM_006920.6(SCN1A):c.3585C>A (p.Asn1195Lys) rs762734890
NM_006920.6(SCN1A):c.3617A>G (p.His1206Arg) rs796052996
NM_006920.6(SCN1A):c.3665G>A (p.Gly1222Asp) rs1553532470
NM_006920.6(SCN1A):c.3677T>C (p.Phe1226Ser) rs1553531410
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3716C>T (p.Thr1239Met) rs140731963
NM_006920.6(SCN1A):c.3739G>A (p.Val1247Ile) rs796052998
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.3892C>T (p.Leu1298Phe) rs121918801
NM_006920.6(SCN1A):c.3973G>A (p.Val1325Ile) rs796053005
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4129G>A (p.Glu1377Lys) rs775820803
NM_006920.6(SCN1A):c.4252-4A>G rs796053007
NM_006920.6(SCN1A):c.4305+5G>A rs796053011
NM_006920.6(SCN1A):c.4312C>T (p.Leu1438Phe) rs768638174
NM_006920.6(SCN1A):c.4330G>A (p.Glu1444Lys) rs1131691600
NM_006920.6(SCN1A):c.4336C>G (p.Leu1446Val) rs796053013
NM_006920.6(SCN1A):c.4443G>A (p.Lys1481=) rs1085307730
NM_006920.6(SCN1A):c.4522C>A (p.Pro1508Thr) rs796053021
NM_006920.6(SCN1A):c.4537C>A (p.Pro1513Thr) rs143088184
NM_006920.6(SCN1A):c.4544C>G (p.Pro1515Arg) rs796053022
NM_006920.6(SCN1A):c.4551C>A (p.Asn1517Lys) rs398123597
NM_006920.6(SCN1A):c.4595T>C (p.Phe1532Ser) rs121917992
NM_006920.6(SCN1A):c.4618A>T (p.Ile1540Phe) rs1553521053
NM_006920.6(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.6(SCN1A):c.4691G>A (p.Arg1564His) rs368834365
NM_006920.6(SCN1A):c.4711G>C (p.Val1571Leu) rs779090130
NM_006920.6(SCN1A):c.4732G>T (p.Val1578Leu) rs796053027
NM_006920.6(SCN1A):c.4754G>A (p.Arg1585His) rs575368466
NM_006920.6(SCN1A):c.4820-3dup rs1553520532
NM_006920.6(SCN1A):c.4822A>G (p.Met1608Val) rs373967247
NM_006920.6(SCN1A):c.5293G>A (p.Val1765Ile) rs796053101
NM_006920.6(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5468C>T (p.Ala1823Val) rs780809852
NM_006920.6(SCN1A):c.5477C>T (p.Pro1826Leu) rs149225252
NM_006920.6(SCN1A):c.5535G>A (p.Met1845Ile) rs144691638
NM_006920.6(SCN1A):c.5587C>T (p.Arg1863Trp) rs796053043
NM_006920.6(SCN1A):c.5599G>C (p.Glu1867Gln) rs148703212
NM_006920.6(SCN1A):c.5606G>A (p.Gly1869Glu) rs201905405
NM_006920.6(SCN1A):c.5644T>C (p.Phe1882Leu) rs1085307686
NM_006920.6(SCN1A):c.5648T>C (p.Met1883Thr) rs562208324
NM_006920.6(SCN1A):c.5722G>C (p.Ala1908Pro) rs796053104
NM_006920.6(SCN1A):c.5737_5757del (p.Arg1913_Leu1919del) rs796053088
NM_006920.6(SCN1A):c.5738G>A (p.Arg1913His) rs3749029
NM_006920.6(SCN1A):c.5744A>G (p.Tyr1915Cys) rs376669368
NM_006920.6(SCN1A):c.5764del (p.Arg1922fs) rs587780446
NM_006920.6(SCN1A):c.5776C>G (p.Gln1926Glu) rs1358776988
NM_006920.6(SCN1A):c.5789C>T (p.Thr1930Met) rs756845310
NM_006920.6(SCN1A):c.5818G>T (p.Ala1940Ser) rs376656165
NM_006920.6(SCN1A):c.5819C>T (p.Ala1940Val) rs1057524816
NM_006920.6(SCN1A):c.5822_5824del (p.Asn1941_Leu1942delinsIle) rs1553519782
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5863G>T (p.Glu1955Ter) rs1057524615
NM_006920.6(SCN1A):c.5878G>C (p.Glu1960Gln) rs1553519738
NM_006920.6(SCN1A):c.5879A>G (p.Glu1960Gly) rs771936735
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308
NM_006920.6(SCN1A):c.5930G>A (p.Arg1977Gln) rs769477807
NM_006920.6(SCN1A):c.5976_5980dup (p.Lys1994fs) rs1553519690

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