ClinVar Miner

List of variants in gene CDC73 studied for Hyperparathyroidism 2 with jaw tumors

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01229
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01222
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01217
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00201
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00188
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00098
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00044
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00032
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00026
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00023
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00023
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00019
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00013
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00011
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_024529.5(CDC73):c.*1599A>G rs543573271 0.00009
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00008
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00007
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00007
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00005
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00005
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00005
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00005
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1296C>G rs1269411417 0.00001
NM_024529.5(CDC73):c.*1303A>G rs886045723 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2131A>T rs886045728 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3086C>T rs886045733 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*94A>G rs547969893 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
CDC73, 41-BP DUP/INS
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3641G>A rs565579791
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.*3808TTG[1] rs143131672
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.131+1del rs2103111785
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.237+28T>C rs4466634
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.584del (p.Ser195fs) rs2527324463
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714

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