ClinVar Miner

List of variants in gene KCNB1 reported as likely pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387 0.00001
NM_004975.4(KCNB1):c.1040G>T (p.Ser347Ile) rs2146813885
NM_004975.4(KCNB1):c.1057G>A (p.Glu353Lys) rs1057524688
NM_004975.4(KCNB1):c.1076C>T (p.Thr359Ile) rs2146813832
NM_004975.4(KCNB1):c.1095del (p.Ala366fs) rs1601071350
NM_004975.4(KCNB1):c.1184G>A (p.Gly395Glu) rs2146813670
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1265A>C (p.Glu422Ala) rs1064795048
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1320_1339dup (p.Ser447Ter) rs1601070913
NM_004975.4(KCNB1):c.605C>G (p.Ser202Cys) rs1060499607
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) rs2146813980
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) rs886039396
NM_004975.4(KCNB1):c.938A>G (p.His313Arg) rs1057521887
NM_004975.4(KCNB1):c.940T>G (p.Ser314Ala) rs1984260160
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004975.4(KCNB1):c.990G>C (p.Glu330Asp) rs1131691489
NM_004975.4(KCNB1):c.995G>T (p.Gly332Val) rs1555889110

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