ClinVar Miner

List of variants studied for Dravet syndrome by Mendelics

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 64
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HGVS dbSNP
NC_000002.12:g.166051989del rs1574266816
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_006920.6(SCN1A):c.1028+1G>A rs863225030
NM_006920.6(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_006920.6(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_006920.6(SCN1A):c.126dup (p.Asp43fs) rs1553560831
NM_006920.6(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
NM_006920.6(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_006920.6(SCN1A):c.2010+2T>C rs1574214843
NM_006920.6(SCN1A):c.207del (p.Pro70fs) rs1574371902
NM_006920.6(SCN1A):c.2098C>T (p.Gln700Ter) rs1574209023
NM_006920.6(SCN1A):c.2114_2117del (p.Ile705fs) rs1574208760
NM_006920.6(SCN1A):c.2144-2A>T rs1436792531
NM_006920.6(SCN1A):c.2382+1G>A rs886041292
NM_006920.6(SCN1A):c.262_264+1del rs1574371141
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile) rs745378416
NM_006920.6(SCN1A):c.2658G>T (p.Leu886Phe) rs1574183148
NM_006920.6(SCN1A):c.3278C>G (p.Ser1093Ter) rs1574168611
NM_006920.6(SCN1A):c.3396+1G>T rs1574166948
NM_006920.6(SCN1A):c.3498_3501dup (p.Ala1168fs) rs1574069132
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.3724_3730dup (p.Ala1244fs) rs1574052179
NM_006920.6(SCN1A):c.384-12A>C rs1574291210
NM_006920.6(SCN1A):c.3970-14C>T rs1241008825
NM_006920.6(SCN1A):c.3970-1G>A rs1574007140
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs) rs1574005699
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn) rs1573991676
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.4506dup (p.Leu1503fs) rs1573973548
NM_006920.6(SCN1A):c.4671T>A (p.Tyr1557Ter) rs1573963975
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.5184del (p.Asp1729fs) rs1573949198
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_006920.6(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_006920.6(SCN1A):c.684del (p.Val229fs) rs1574271602
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_006920.6(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471

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