ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1055_1066del (p.Ala352_Asp355del) rs2146813853
NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg) rs886041743
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1132G>C (p.Val378Leu) rs1569017143
NM_004975.4(KCNB1):c.1133T>C (p.Val378Ala) rs1984250089
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.1144G>C (p.Asp382His) rs1555889090
NM_004975.4(KCNB1):c.1232T>A (p.Ile411Asn)
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs) rs1555889069
NM_004975.4(KCNB1):c.1550C>A (p.Ser517Ter) rs770677266
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.661delinsAT (p.Gly221fs) rs1555889157
NM_004975.4(KCNB1):c.820dup (p.Tyr274fs) rs886041617
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.937C>T (p.His313Tyr) rs918313461
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.978del (p.Ser327fs) rs1984257835

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