ClinVar Miner

List of variants in gene KCNB1 reported as uncertain significance by GeneDx

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His) rs530927636 0.00025
NM_004975.4(KCNB1):c.1371C>G (p.Ser457Arg) rs770317185 0.00001
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) rs770677266 0.00001
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) rs1984227856 0.00001
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) rs947355756 0.00001
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) rs770069345 0.00001
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) rs267605983 0.00001
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) rs1049874069 0.00001
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) rs1315753296 0.00001
NM_004975.4(KCNB1):c.1022G>T (p.Gly341Val)
NM_004975.4(KCNB1):c.1055C>T (p.Ala352Val)
NM_004975.4(KCNB1):c.1083C>A (p.Phe361Leu)
NM_004975.4(KCNB1):c.113G>C (p.Gly38Ala) rs1555801618
NM_004975.4(KCNB1):c.1154C>T (p.Pro385Leu) rs2146813711
NM_004975.4(KCNB1):c.1178T>C (p.Val393Ala)
NM_004975.4(KCNB1):c.117dup (p.Leu40fs)
NM_004975.4(KCNB1):c.1204G>T (p.Val402Phe)
NM_004975.4(KCNB1):c.1298G>A (p.Arg433Gln)
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) rs368043123
NM_004975.4(KCNB1):c.1573_1587dup (p.Asn525_Leu529dup) rs1009356716
NM_004975.4(KCNB1):c.1687G>T (p.Glu563Ter)
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) rs544069848
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) rs2146812741
NM_004975.4(KCNB1):c.1898G>A (p.Ser633Asn) rs750807577
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) rs763718208
NM_004975.4(KCNB1):c.1942_1945del (p.Gln648fs) rs2146812625
NM_004975.4(KCNB1):c.2029A>G (p.Met677Val) rs1202934279
NM_004975.4(KCNB1):c.2069T>C (p.Met690Thr) rs776815894
NM_004975.4(KCNB1):c.2079C>A (p.Asp693Glu) rs1470429088
NM_004975.4(KCNB1):c.2091C>G (p.Asn697Lys) rs746382408
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) rs1601069538
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) rs1304300872
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) rs1131691752
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.241_243del (p.Asn81del)
NM_004975.4(KCNB1):c.2470G>C (p.Gly824Arg)
NM_004975.4(KCNB1):c.342C>A (p.Ser114Arg) rs1980517037
NM_004975.4(KCNB1):c.368G>T (p.Gly123Val)
NM_004975.4(KCNB1):c.430A>C (p.Met144Leu)
NM_004975.4(KCNB1):c.596T>G (p.Ile199Ser) rs2146814365
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) rs1984274983
NM_004975.4(KCNB1):c.682del (p.Gln228fs)
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) rs778774389
NM_004975.4(KCNB1):c.74_75delinsAA (p.Arg25Gln) rs2122803954
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) rs769852170
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.899G>A (p.Arg300His)

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