ClinVar Miner

List of variants studied for Epilepsy, progressive myoclonic 5 by Invitae

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Total variants: 47
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HGVS dbSNP
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln)
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val)
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys)
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys)
NM_198859.4(PRICKLE2):c.144+10T>C rs74535153
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys)
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu)
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala)
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly)
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.1994T>C (p.Met665Thr) rs200223474
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly)
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln) rs1559550002
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln)
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) rs972442832
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys)
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His)
NM_198859.4(PRICKLE2):c.397-8C>T rs762192312
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg) rs775889804
NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu)
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.445G>T (p.Ala149Ser) rs202025796
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser) rs199566606
NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe) rs1553644844
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) rs777067889
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile) rs773419206
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys)
NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe) rs1553644782
NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His) rs1553644768
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077
NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys) rs1199006668
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile)
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) rs888655219
NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu)
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr)

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