ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic for KCNQ2-related epileptic encephalopathy

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys) rs1600732174
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile)
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236

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