ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1154T>A (p.Ile385Asn) rs1057519123
NM_172107.3(KCNQ2):c.149G>A (p.Arg50His) rs1064797286
NM_172107.3(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.3(KCNQ2):c.1887+5G>A rs777916008
NM_172107.3(KCNQ2):c.2068G>A (p.Val690Met) rs373902907
NM_172107.3(KCNQ2):c.2355C>A (p.Asp785Glu) rs781121496
NM_172107.3(KCNQ2):c.2555C>T (p.Pro852Leu) rs745508762
NM_172107.3(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768
NM_172107.3(KCNQ2):c.320T>C (p.Leu107Pro) rs1555874569
NM_172107.3(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.3(KCNQ2):c.563A>C (p.Gln188Pro) rs1064797285
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.815T>C (p.Leu272Pro) rs1057519227

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