ClinVar Miner

List of variants in gene KDM5C reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro) rs145666414 0.00052
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004187.5(KDM5C):c.523-3C>T rs371886616 0.00019
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004187.5(KDM5C):c.2091C>T (p.Phe697=) rs782198070 0.00018
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_004187.5(KDM5C):c.3997T>G (p.Ser1333Ala) rs146572363 0.00016
NM_004187.5(KDM5C):c.4587G>A (p.Ala1529=) rs372882867 0.00014
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=) rs149733911 0.00011
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn) rs782163332 0.00008
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser) rs782770109 0.00005
NM_004187.5(KDM5C):c.4665G>A (p.Pro1555=) rs370930723 0.00005
NM_004187.5(KDM5C):c.1169G>A (p.Arg390Gln) rs1556849128 0.00003
NM_004187.5(KDM5C):c.1329C>T (p.Asp443=) rs782060947 0.00003
NM_004187.5(KDM5C):c.652C>T (p.Pro218Ser) rs782076366 0.00003
NM_004187.5(KDM5C):c.3518G>A (p.Ser1173Asn) rs1556834744 0.00002
NM_004187.5(KDM5C):c.3668C>T (p.Pro1223Leu) rs199817424 0.00002
NM_004187.5(KDM5C):c.4406G>T (p.Gly1469Val) rs1428371887 0.00002
NM_004187.5(KDM5C):c.4610C>T (p.Ser1537Leu) rs782534108 0.00002
NM_004187.5(KDM5C):c.861G>A (p.Ser287=) rs61751238 0.00002
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp) rs1018074229 0.00001
NM_004187.5(KDM5C):c.3648G>C (p.Val1216=) rs782034482 0.00001
NM_004187.5(KDM5C):c.975T>C (p.Tyr325=) rs1298715318 0.00001
NM_004187.5(KDM5C):c.*124G>C
NM_004187.5(KDM5C):c.1050C>T (p.His350=) rs1569277258
NM_004187.5(KDM5C):c.1054T>A (p.Phe352Ile)
NM_004187.5(KDM5C):c.1099C>T (p.Arg367Trp)
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1365C>T (p.Val455=)
NM_004187.5(KDM5C):c.1393G>A (p.Glu465Lys)
NM_004187.5(KDM5C):c.147del (p.Ala50fs)
NM_004187.5(KDM5C):c.1499C>T (p.Pro500Leu) rs1569273900
NM_004187.5(KDM5C):c.1736A>G (p.His579Arg)
NM_004187.5(KDM5C):c.1794C>G (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.1837G>A (p.Glu613Lys) rs2073150409
NM_004187.5(KDM5C):c.1957G>A (p.Ala653Thr)
NM_004187.5(KDM5C):c.1988C>T (p.Ala663Val) rs1255690543
NM_004187.5(KDM5C):c.2092G>A (p.Glu698Lys) rs1057517955
NM_004187.5(KDM5C):c.2139G>A (p.Thr713=)
NM_004187.5(KDM5C):c.2165A>G (p.Tyr722Cys) rs1569264169
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2366G>A (p.Arg789His)
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.2560C>T (p.Arg854Trp)
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter) rs1556838661
NM_004187.5(KDM5C):c.2663G>T (p.Arg888Leu) rs375850872
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val) rs2073805082
NM_004187.5(KDM5C):c.2725C>T (p.Arg909Trp)
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter) rs1556837420
NM_004187.5(KDM5C):c.2785C>T (p.Arg929Ter) rs782405999
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter) rs1556836399
NM_004187.5(KDM5C):c.3323C>T (p.Ala1108Val)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.3526G>T (p.Ala1176Ser)
NM_004187.5(KDM5C):c.3755G>A (p.Arg1252His) rs1934666974
NM_004187.5(KDM5C):c.3835C>T (p.Gln1279Ter)
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.3962C>T (p.Pro1321Leu)
NM_004187.5(KDM5C):c.3966G>A (p.Glu1322=)
NM_004187.5(KDM5C):c.4040T>A (p.Val1347Asp) rs1569257275
NM_004187.5(KDM5C):c.4067G>A (p.Ser1356Asn)
NM_004187.5(KDM5C):c.423C>T (p.Leu141=)
NM_004187.5(KDM5C):c.4312C>G (p.Leu1438Val)
NM_004187.5(KDM5C):c.4381C>T (p.Arg1461Trp)
NM_004187.5(KDM5C):c.4399G>C (p.Gly1467Arg)
NM_004187.5(KDM5C):c.4483G>A (p.Glu1495Lys)
NM_004187.5(KDM5C):c.4511G>A (p.Gly1504Asp)
NM_004187.5(KDM5C):c.4633C>T (p.Pro1545Ser)
NM_004187.5(KDM5C):c.4649C>T (p.Pro1550Leu)
NM_004187.5(KDM5C):c.474A>G (p.Glu158=) rs1569280019
NM_004187.5(KDM5C):c.608C>T (p.Pro203Leu) rs797045641

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