ClinVar Miner

List of variants reported as likely benign for Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy by Illumina Clinical Services Laboratory,Illumina

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Total variants: 25
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HGVS dbSNP
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1243T>C rs141466507
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*1315C>T
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498
NM_001161352.2(KCNMA1):c.*2138C>T
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003
NM_001161352.2(KCNMA1):c.*321C>T rs7078702
NM_001161352.2(KCNMA1):c.*634C>G rs74139846
NM_001161352.2(KCNMA1):c.*690C>A rs145289064
NM_001161352.2(KCNMA1):c.*932G>T rs76644618
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
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.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile) rs142770262
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.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097

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