ClinVar Miner

List of variants in gene CDC73 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_024529.5(CDC73):c.873C>T (p.Asn291=) rs149400412 0.00036
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_024529.5(CDC73):c.333C>T (p.Ser111=) rs374834265 0.00006
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1551A>G (p.Thr517=) rs752668844 0.00001
NM_024529.5(CDC73):c.1559+20A>G rs1281829953 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.280C>T (p.Leu94=) rs747811573 0.00001
NM_024529.5(CDC73):c.315G>A (p.Ser105=) rs771258964 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.370+17A>G rs760583012 0.00001
NM_024529.5(CDC73):c.519G>A (p.Leu173=) rs749039338 0.00001
NM_024529.5(CDC73):c.730-14C>G rs183077646 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.132-17T>G rs2103113863
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.908-6del rs563805986

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