ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584
NM_198859.4(PRICKLE2):c.144+10T>C rs74535153
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=) rs149786687
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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