ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic for Early infantile epileptic encephalopathy

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Total variants: 11
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HGVS dbSNP
NM_172107.2:c.998G>A
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.927+1G>C
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
Single allele

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