ClinVar Miner

List of variants in gene CDC73 studied for Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors

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Gene type:
ClinVar version:
Total variants: 88
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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.989G>A (p.Arg330Gln) rs149875598 0.00014
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.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser) rs746972930 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.1405A>G (p.Ile469Val) rs1252554973 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.1580C>T (p.Ser527Leu) rs767254478 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.513-8G>T rs757366134 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.803G>A (p.Arg268Gln) rs750706815 0.00001
NM_024529.5(CDC73):c.815A>G (p.Asn272Ser) rs752383339 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.-2A>G rs1572139644
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1073G>A (p.Arg358Gln)
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr) rs1677295843
NM_024529.5(CDC73):c.113C>A (p.Thr38Asn)
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu) rs2102058240
NM_024529.5(CDC73):c.1193A>T (p.Gln398Leu) rs878855088
NM_024529.5(CDC73):c.127dup (p.Trp43fs)
NM_024529.5(CDC73):c.129G>T (p.Trp43Cys)
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1317-10C>A
NM_024529.5(CDC73):c.132-17T>G rs2103113863
NM_024529.5(CDC73):c.1321C>T (p.Arg441Cys)
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1334T>G (p.Val445Gly)
NM_024529.5(CDC73):c.1387G>T (p.Asp463Tyr)
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile) rs1199025166
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys) rs1292596060
NM_024529.5(CDC73):c.1533C>A (p.Phe511Leu)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.205C>T (p.Leu69Phe) rs1675543142
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser) rs1675773683
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.370+3A>T
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.44A>G (p.Lys15Arg)
NM_024529.5(CDC73):c.493G>A (p.Val165Ile)
NM_024529.5(CDC73):c.512+1del
NM_024529.5(CDC73):c.549del (p.Ala184fs)
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.701G>A (p.Arg234Gln)
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.72A>G (p.Glu24=) rs1572139792
NM_024529.5(CDC73):c.730-10T>G
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
NM_024529.5(CDC73):c.776_778del (p.Arg259_Glu260delinsLys)
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro) rs750706815
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.860C>G (p.Pro287Arg)
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.908-6del rs563805986
NM_024529.5(CDC73):c.973-18A>G
NM_024529.5(CDC73):c.973-6T>C rs1677131770
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser) rs2103178025

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