ClinVar Miner

List of variants reported as benign for Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy by Invitae

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Total variants: 21
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HGVS dbSNP
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=) rs75207686
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=) rs200608314
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=) rs368568833
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=) rs138823071
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=) rs115772068
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=) rs189703190
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097

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