ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500 0.00004
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu) rs761544880 0.00003
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu) rs777940990 0.00002
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu) rs754682495 0.00001
NM_172107.4(KCNQ2):c.1486T>A (p.Phe496Ile) rs762518963 0.00001
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1991C>T (p.Pro664Leu) rs765493484 0.00001
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val) rs779430808 0.00001
NM_172107.4(KCNQ2):c.2504C>T (p.Ala835Val) rs754310883 0.00001
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly) rs1006613253 0.00001
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser) rs915805727 0.00001
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr) rs1284566908
NM_172107.4(KCNQ2):c.1414A>G (p.Ser472Gly)
NM_172107.4(KCNQ2):c.1575C>T (p.Cys525=)
NM_172107.4(KCNQ2):c.1632-5T>A
NM_172107.4(KCNQ2):c.17G>C (p.Arg6Pro) rs866843916
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.188G>T (p.Gly63Val)
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser) rs972841085
NM_172107.4(KCNQ2):c.2023G>A (p.Asp675Asn)
NM_172107.4(KCNQ2):c.2111C>T (p.Pro704Leu)
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp) rs751657917
NM_172107.4(KCNQ2):c.2221C>T (p.Arg741Cys) rs2079965070
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.4(KCNQ2):c.2566G>C (p.Ala856Pro)
NM_172107.4(KCNQ2):c.2593G>A (p.Val865Met)
NM_172107.4(KCNQ2):c.2612G>A (p.Arg871Lys) rs2079942562
NM_172107.4(KCNQ2):c.439G>C (p.Ala147Pro) rs1568941739
NM_172107.4(KCNQ2):c.494G>A (p.Arg165Gln)
NM_172107.4(KCNQ2):c.528_548dup (p.Leu183_Ala184insIleAlaSerIleAlaValLeu)
NM_172107.4(KCNQ2):c.55A>C (p.Lys19Gln)
NM_172107.4(KCNQ2):c.611_619del (p.Gln204_Leu206del)
NM_172107.4(KCNQ2):c.712A>C (p.Ile238Leu) rs747050726
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser) rs796052631
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.83A>T (p.Asp28Val)
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser) rs1057519535

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