ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by Mendelics

Included ClinVar conditions (8):
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Minimum conflict level:
ClinVar version:
Total variants: 27
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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.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
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.126dup (p.Asp43fs) rs1553560831
NM_006920.6(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
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.2382+1G>A rs886041292
NM_006920.6(SCN1A):c.262_264+1del rs1574371141
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.3498_3501dup (p.Ala1168fs) rs1574069132
NM_006920.6(SCN1A):c.3724_3730dup (p.Ala1244fs) rs1574052179
NM_006920.6(SCN1A):c.3970-1G>A rs1574007140
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.5184del (p.Asp1729fs) rs1573949198
NM_006920.6(SCN1A):c.684del (p.Val229fs) rs1574271602

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