ClinVar Miner

List of variants in gene GAL studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_015973.3:c.82del
NM_015973.5(GAL):c.106C>T (p.Leu36=) rs528520052
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_015973.5(GAL):c.137-2A>G
NM_015973.5(GAL):c.140C>T (p.Ala47Val) rs374472664
NM_015973.5(GAL):c.166G>A (p.Asp56Asn)
NM_015973.5(GAL):c.177C>G (p.Gly59=) rs533111349
NM_015973.5(GAL):c.178C>T (p.Leu60Phe)
NM_015973.5(GAL):c.199C>T (p.Arg67Trp) rs200075890
NM_015973.5(GAL):c.205G>A (p.Glu69Lys) rs571107777
NM_015973.5(GAL):c.253A>G (p.Asn85Asp) rs145825008
NM_015973.5(GAL):c.263G>A (p.Arg88His) rs778530092
NM_015973.5(GAL):c.306C>T (p.Ala102=) rs147122838
NM_015973.5(GAL):c.361G>A (p.Glu121Lys) rs139127322
NM_015973.5(GAL):c.364C>T (p.Arg122Trp) rs36058701
NM_015973.5(GAL):c.43G>A (p.Ala15Thr)
NM_015973.5(GAL):c.47C>T (p.Ala16Val) rs34725707
NM_015973.5(GAL):c.55T>C (p.Ser19Pro) rs746008445
NM_015973.5(GAL):c.66G>A (p.Ala22=) rs542684427

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