ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768 0.00006
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046 0.00004
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr) rs781778855 0.00003
NM_172107.4(KCNQ2):c.1483G>C (p.Ala495Pro) rs200251507 0.00003
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.290C>T (p.Ala97Val) rs1131691879 0.00002
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286 0.00001
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met) rs373902907 0.00001
NM_172107.4(KCNQ2):c.2071C>T (p.Arg691Cys) rs1223286018 0.00001
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762 0.00001
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser) rs1260593444
NM_172107.4(KCNQ2):c.1149-6_1149-5dup rs992228422
NM_172107.4(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.4(KCNQ2):c.1168C>G (p.Gln390Glu)
NM_172107.4(KCNQ2):c.1205G>A (p.Gly402Glu)
NM_172107.4(KCNQ2):c.1464C>G (p.Asp488Glu)
NM_172107.4(KCNQ2):c.1695G>A (p.Met565Ile) rs2080188612
NM_172107.4(KCNQ2):c.1699G>A (p.Val567Ile) rs748571840
NM_172107.4(KCNQ2):c.1777G>C (p.Val593Leu)
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu) rs1021032210
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1964C>A (p.Thr655Asn) rs1459962137
NM_172107.4(KCNQ2):c.2090G>T (p.Gly697Val)
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met) rs756563523
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys) rs796052658
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr) rs587780366
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.4(KCNQ2):c.2419A>C (p.Ile807Leu) rs1202025157
NM_172107.4(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.4(KCNQ2):c.508G>C (p.Val170Leu) rs2145778732
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr) rs2081192615
NM_172107.4(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227

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