ClinVar Miner

List of variants studied for Unverricht-Lundborg syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948

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