ClinVar Miner

List of variants reported as likely benign for Epilepsy, progressive myoclonic 5

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Total variants: 8
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HGVS dbSNP
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952
NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=) rs1337013281
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.4(PRICKLE2):c.397-8C>T rs762192312
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) rs777067889
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) rs888655219

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