ClinVar Miner

List of variants in gene KDM5B studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=) rs1141108 0.66577
NM_006618.5(KDM5B):c.747G>A (p.Thr249=) rs3196669 0.66570
NM_006618.5(KDM5B):c.1887C>T (p.His629=) rs1892164 0.60950
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu) rs141191327 0.00088
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr) rs549414130 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser) rs1295611134
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser) rs1656013992
NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)
NM_006618.5(KDM5B):c.1795G>T (p.Ala599Ser)
NM_006618.5(KDM5B):c.2074T>G (p.Cys692Gly)
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
NM_006618.5(KDM5B):c.2198+25dup rs3216061
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu) rs1244407080
NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)
NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val) rs1655336497
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro) rs748231291
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)
NM_006618.5(KDM5B):c.3085-4T>G
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=) rs1141109
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) rs1572705473
NM_006618.5(KDM5B):c.3799del (p.Gln1267fs) rs1558479778
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.4109_4113del (p.Leu1370fs)
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
NM_006618.5(KDM5B):c.469A>T (p.Thr157Ser)
NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)
NM_006618.5(KDM5B):c.622dup (p.Tyr208fs) rs1558501648
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser) rs375695605
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
c.2475-2A-G

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