ClinVar Miner

List of variants in gene KDM5C reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004187.5(KDM5C):c.2595C>T (p.Cys865=) rs371450943 0.00021
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=) rs373931846 0.00006
NM_004187.5(KDM5C):c.2204A>G (p.Asn735Ser) rs782088735 0.00002
NM_004187.5(KDM5C):c.3668C>T (p.Pro1223Leu) rs199817424 0.00002
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=) rs782180827 0.00001
NM_004187.5(KDM5C):c.4133C>T (p.Ser1378Phe) rs1556833050 0.00001
GRCh37/hg19 Xp11.22(chrX:53253922-53254071)x0
NM_004187.4(KDM5C):c.*1360A>G
NM_004187.5(KDM5C):c.*124G>C
NM_004187.5(KDM5C):c.*130C>A
NM_004187.5(KDM5C):c.*130C>G rs782201442
NM_004187.5(KDM5C):c.*193G>C
NM_004187.5(KDM5C):c.*198C>A rs1556831635
NM_004187.5(KDM5C):c.1353C>T (p.Ser451=)
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1593G>A (p.Pro531=)
NM_004187.5(KDM5C):c.1712T>G (p.Met571Arg)
NM_004187.5(KDM5C):c.1746+4_1746+7dup
NM_004187.5(KDM5C):c.2049C>T (p.Ala683=)
NM_004187.5(KDM5C):c.2095C>T (p.Leu699=)
NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met) rs1064794733
NM_004187.5(KDM5C):c.2139G>T (p.Thr713=)
NM_004187.5(KDM5C):c.2167G>T (p.Asp723Tyr)
NM_004187.5(KDM5C):c.2179G>A (p.Gly727Ser)
NM_004187.5(KDM5C):c.2211C>G (p.Leu737=) rs1569264078
NM_004187.5(KDM5C):c.2242C>T (p.Arg748Trp)
NM_004187.5(KDM5C):c.2278C>T (p.Leu760=)
NM_004187.5(KDM5C):c.2373T>G (p.Leu791=)
NM_004187.5(KDM5C):c.237G>A (p.Thr79=)
NM_004187.5(KDM5C):c.2511A>G (p.Glu837=)
NM_004187.5(KDM5C):c.2745G>A (p.Val915=) rs1440517448
NM_004187.5(KDM5C):c.2771A>G (p.Gln924Arg) rs1934899342
NM_004187.5(KDM5C):c.2795A>T (p.Asp932Val)
NM_004187.5(KDM5C):c.2821del (p.Ser941fs)
NM_004187.5(KDM5C):c.2919G>A (p.Leu973=) rs1934884363
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3174C>G (p.Gly1058=) rs782153358
NM_004187.5(KDM5C):c.3192G>T (p.Gly1064=)
NM_004187.5(KDM5C):c.3383C>T (p.Ser1128Phe)
NM_004187.5(KDM5C):c.3490C>T (p.Leu1164=) rs2146823630
NM_004187.5(KDM5C):c.3619G>A (p.Asp1207Asn)
NM_004187.5(KDM5C):c.3652C>T (p.Arg1218Cys)
NM_004187.5(KDM5C):c.3981C>T (p.Tyr1327=)
NM_004187.5(KDM5C):c.3988G>A (p.Ala1330Thr) rs1602160910
NM_004187.5(KDM5C):c.398G>T (p.Arg133Leu)
NM_004187.5(KDM5C):c.399G>T (p.Arg133=)
NM_004187.5(KDM5C):c.4095G>A (p.Pro1365=)
NM_004187.5(KDM5C):c.4156G>A (p.Gly1386Ser)
NM_004187.5(KDM5C):c.418C>T (p.Arg140Cys) rs1602230417
NM_004187.5(KDM5C):c.4352G>A (p.Arg1451Gln) rs1437945152
NM_004187.5(KDM5C):c.4518C>G (p.Gly1506=)
NM_004187.5(KDM5C):c.4675C>A (p.Gln1559Lys) rs1463790897
NM_004187.5(KDM5C):c.569A>G (p.Tyr190Cys) rs2146946968
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.5(KDM5C):c.740G>A (p.Gly247Asp)
NM_004187.5(KDM5C):c.936A>G (p.Leu312=) rs2073725221

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