ClinVar Miner

List of variants in gene CLCN2 studied for Epilepsy, idiopathic generalized, susceptibility to, 11

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) rs141605519 0.00008
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) rs1458831101
NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser)
NM_004366.6(CLCN2):c.1721+5G>A
NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)
NM_004366.6(CLCN2):c.221-14_221-4del rs515726132
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr)
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro) rs770392085
NM_004366.6(CLCN2):c.73C>T (p.Arg25Trp)
NM_004366.6(CLCN2):c.937G>A (p.Asp313Asn)
NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser) rs2108571082

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