ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by Ambry Genetics

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Gene type:
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Total variants: 50
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HGVS dbSNP
NM_006920.6(SCN1A):c.3119T>C (p.Leu1040Pro)
NM_006920.6(SCN1A):c.3133A>G (p.Asn1045Asp)
NM_006920.6(SCN1A):c.3166G>A (p.Ala1056Thr) rs2298771
NM_006920.6(SCN1A):c.3259del (p.Asp1087fs) rs1553540213
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3497C>G (p.Pro1166Arg) rs752060724
NM_006920.6(SCN1A):c.3582G>A (p.Trp1194Ter) rs794726720
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3853T>C (p.Leu1285=) rs375896308
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3915G>A (p.Arg1305=) rs149579028
NM_006920.6(SCN1A):c.3935C>A (p.Pro1312His) rs1057521746
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.3980A>C (p.Asn1327Thr) rs797044952
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4138A>C (p.Asn1380His) rs1295072436
NM_006920.6(SCN1A):c.4186C>T (p.Arg1396Ter) rs398123593
NM_006920.6(SCN1A):c.4268G>A (p.Trp1423Ter) rs1559122263
NM_006920.6(SCN1A):c.4305+1G>C rs1553523138
NM_006920.6(SCN1A):c.4351T>C (p.Tyr1451His) rs1559119345
NM_006920.6(SCN1A):c.4360A>G (p.Ile1454Val) rs138231868
NM_006920.6(SCN1A):c.4417_4420del (p.Asp1473fs) rs1559118996
NM_006920.6(SCN1A):c.4488C>G (p.Tyr1496Ter) rs750997506
NM_006920.6(SCN1A):c.4515G>A (p.Ser1505=) rs78041051
NM_006920.6(SCN1A):c.4518A>G (p.Lys1506=) rs374087499
NM_006920.6(SCN1A):c.4523C>T (p.Pro1508Leu) rs372425457
NM_006920.6(SCN1A):c.4524G>A (p.Pro1508=) rs368785509
NM_006920.6(SCN1A):c.4541G>A (p.Arg1514Gln) rs1559114408
NM_006920.6(SCN1A):c.4579G>A (p.Val1527Ile) rs780360360
NM_006920.6(SCN1A):c.4664G>A (p.Ser1555Asn)
NM_006920.6(SCN1A):c.4684T>C (p.Leu1562=) rs1559110682
NM_006920.6(SCN1A):c.4698T>C (p.Asn1566=) rs145296488
NM_006920.6(SCN1A):c.4760A>T (p.Tyr1587Phe) rs377325221
NM_006920.6(SCN1A):c.4839G>A (p.Leu1613=) rs142910512
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.4890T>C (p.Ala1630=) rs369650500
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4912C>T (p.Leu1638=) rs148546224
NM_006920.6(SCN1A):c.4952C>T (p.Ala1651Val) rs794726839
NM_006920.6(SCN1A):c.5244A>C (p.Pro1748=) rs1044871344
NM_006920.6(SCN1A):c.5253A>G (p.Gly1751=) rs150570058
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460
NM_006920.6(SCN1A):c.5385G>A (p.Glu1795=) rs140237315
NM_006920.6(SCN1A):c.5535G>A (p.Met1845Ile) rs144691638
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308
NM_006920.6(SCN1A):c.5962C>T (p.Gln1988Ter)

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