ClinVar Miner

List of variants in gene RELN reported as likely pathogenic for childhood-onset epilepsy syndrome

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.3912+2T>G rs1226957030 0.00001
NM_005045.4(RELN):c.7349+2T>C rs982831716 0.00001
NC_000007.14:g.(?_103589576)_(103610827_?)dup
NM_005045.4(RELN):c.2002+1G>A
NM_005045.4(RELN):c.2303+1G>A rs2117350995
NM_005045.4(RELN):c.2303+2T>G
NM_005045.4(RELN):c.2465+2T>G
NM_005045.4(RELN):c.3463dup (p.Leu1155fs) rs1831540987
NM_005045.4(RELN):c.473+1G>A
NM_005045.4(RELN):c.4936+1G>T
NM_005045.4(RELN):c.5615-2A>G rs2117168257
NM_005045.4(RELN):c.6068_6072+20del
NM_005045.4(RELN):c.6314del (p.Phe2105fs) rs1830269249
NM_005045.4(RELN):c.7180+1G>T rs2117126444
NM_005045.4(RELN):c.805+1G>T

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