ClinVar Miner

List of variants in gene combination CERS1, GDF1 reported as benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001492.6(GDF1):c.-1107C>G rs3746263 0.71463
NM_001492.6(GDF1):c.-1089T>C rs113536478 0.25589
NM_001492.6(GDF1):c.-422-11C>T rs2075762 0.09802
NM_021267.5(CERS1):c.492C>T (p.Tyr164=) rs45601540 0.00715
NM_021267.5(CERS1):c.450C>T (p.Ala150=) rs201106410 0.00126
NM_001492.6(GDF1):c.-894A>G rs200107216 0.00064
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro) rs864622513 0.00012
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup) rs571387097
NM_021267.5(CERS1):c.591-3del

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