ClinVar Miner

List of variants in gene KCNQ2 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 14
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HGVS dbSNP
NM_172107.4(KCNQ2):c.*4G>A rs1801508
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199

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