ClinVar Miner

List of variants in gene KCNB1 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675

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