ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (8):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
NM_001165963.4(SCN1A):c.4581+18A>G
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) rs1057519533
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) rs1057518671
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_006920.6(SCN1A):c.3396+1G>T rs1574166948
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile) rs1131691775
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs) rs1574005699
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn) rs1573991676
NM_006920.6(SCN1A):c.4305+616G>A rs1366966423
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036

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