ClinVar Miner

List of variants studied for Dravet syndrome by Neurogenetics Laboratory - MEYER,AOU Meyer

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_006920.6(SCN1A):c.3657dup (p.Ser1220Ter) rs1057519534
NM_006920.6(SCN1A):c.4781A>T (p.Asn1594Ile) rs1057519533
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.6(SCN1A):c.603-2A>G rs1057519531
NM_006920.6(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530

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