ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747

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