ClinVar Miner

List of variants studied for Hypercalcemia, infantile, 1

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241 0.51337
NM_000782.5(CYP24A1):c.*140T>C rs4809957 0.28683
NM_000782.5(CYP24A1):c.1125G>A (p.Pro375=) rs2296239 0.28667
NM_000782.5(CYP24A1):c.*715C>G rs6022987 0.27231
NM_000782.5(CYP24A1):c.*50C>T rs2762934 0.17757
NM_000782.5(CYP24A1):c.744G>A (p.Thr248=) rs6068816 0.08737
NM_000782.5(CYP24A1):c.990+9G>A rs6022993 0.07682
NM_000782.5(CYP24A1):c.*872C>T rs11907350 0.07142
NM_000782.5(CYP24A1):c.-76C>T rs73913755 0.05036
NM_000782.5(CYP24A1):c.1527C>T (p.Ile509=) rs61730999 0.04268
NM_000782.5(CYP24A1):c.*438C>T rs16999060 0.02867
NM_000782.5(CYP24A1):c.1121T>C (p.Met374Thr) rs6022990 0.02863
NM_000782.5(CYP24A1):c.*77T>G rs16999067 0.02858
NM_000782.5(CYP24A1):c.-94A>G rs74424092 0.01798
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_000782.5(CYP24A1):c.-100T>C rs144737632 0.01502
NM_000782.5(CYP24A1):c.*716G>A rs75213738 0.00792
NM_000782.5(CYP24A1):c.1529C>T (p.Ala510Val) rs116065115 0.00529
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736 0.00377
NM_000782.5(CYP24A1):c.*1135C>T rs149240951 0.00215
NM_000782.5(CYP24A1):c.604G>C (p.Asp202His) rs114579367 0.00192
NM_000782.5(CYP24A1):c.-307G>T rs562743240 0.00172
NM_000782.5(CYP24A1):c.*1091C>T rs531896457 0.00116
NM_000782.5(CYP24A1):c.640+15C>G rs117685582 0.00103
NM_000782.5(CYP24A1):c.*885T>G rs182056037 0.00095
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys) rs115260488 0.00065
NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met) rs149806586 0.00064
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=) rs116104487 0.00062
NM_000782.5(CYP24A1):c.*748G>A rs371011704 0.00048
NM_000782.5(CYP24A1):c.908G>C (p.Cys303Ser) rs76747058 0.00046
NM_000782.5(CYP24A1):c.533A>G (p.Lys178Arg) rs146404747 0.00041
NM_000782.5(CYP24A1):c.735G>A (p.Met245Ile) rs114930663 0.00041
NM_000782.5(CYP24A1):c.1369G>A (p.Val457Ile) rs112596218 0.00030
NM_000782.5(CYP24A1):c.473T>C (p.Val158Ala) rs139655790 0.00029
NM_000782.5(CYP24A1):c.*987T>C rs118099730 0.00024
NM_000782.5(CYP24A1):c.-135C>T rs556468258 0.00024
NM_000782.5(CYP24A1):c.*244C>T rs546594298 0.00022
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=) rs151204685 0.00022
NM_000782.5(CYP24A1):c.-385G>A rs746437890 0.00016
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) rs139763321 0.00014
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=) rs377533549 0.00011
NM_000782.5(CYP24A1):c.-148T>C rs866472510 0.00010
NM_000782.5(CYP24A1):c.*454G>A rs761330571 0.00009
NM_000782.5(CYP24A1):c.150C>T (p.Gly50=) rs566481776 0.00009
NM_000782.5(CYP24A1):c.733-9T>C rs895309596 0.00009
NM_000782.5(CYP24A1):c.*1122A>C rs564857266 0.00008
NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=) rs373504037 0.00008
NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile) rs770028088 0.00008
NM_000782.5(CYP24A1):c.*525C>T rs922871712 0.00007
NM_000782.5(CYP24A1):c.217A>T (p.Ile73Phe) rs201820243 0.00007
NM_000782.5(CYP24A1):c.*1014C>T rs886056781 0.00006
NM_000782.5(CYP24A1):c.*51G>A rs552552032 0.00006
NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) rs550482750 0.00006
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=) rs147886742 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr) rs748676671 0.00006
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg) rs760244872 0.00006
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala) rs140851407 0.00006
NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=) rs77764129 0.00004
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_000782.5(CYP24A1):c.695G>A (p.Gly232Glu) rs552660376 0.00004
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) rs387907324 0.00004
NM_000782.5(CYP24A1):c.*375A>G rs886056785 0.00003
NM_000782.5(CYP24A1):c.-118T>C rs886056792 0.00003
NM_000782.5(CYP24A1):c.-37C>A rs549112129 0.00003
NM_000782.5(CYP24A1):c.-50C>T rs886056791 0.00003
NM_000782.5(CYP24A1):c.1098A>T (p.Pro366=) rs764982769 0.00003
NM_000782.5(CYP24A1):c.1353G>A (p.Ala451=) rs775504814 0.00003
NM_000782.5(CYP24A1):c.1449C>T (p.Tyr483=) rs73135773 0.00003
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=) rs774042537 0.00003
NM_000782.5(CYP24A1):c.*1288A>G rs543296744 0.00002
NM_000782.5(CYP24A1):c.*317T>C rs181138149 0.00002
NM_000782.5(CYP24A1):c.1310C>A (p.Pro437His) rs753140812 0.00002
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_000782.5(CYP24A1):c.397C>G (p.Pro133Ala) rs200891772 0.00002
NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile) rs781367354 0.00002
NM_000782.5(CYP24A1):c.*1095C>G rs886056780 0.00001
NM_000782.5(CYP24A1):c.*217A>G rs922900713 0.00001
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329 0.00001
NM_000782.5(CYP24A1):c.1124C>T (p.Pro375Leu) rs189801930 0.00001
NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr) rs1475780594 0.00001
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=) rs761949738 0.00001
NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser) rs776627911 0.00001
NM_000782.5(CYP24A1):c.376C>T (p.Pro126Ser) rs148084028 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000782.5(CYP24A1):c.732+7A>T rs532499456 0.00001
NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) rs373902459 0.00001
NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser) rs1413437455 0.00001
NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe) rs1238041646 0.00001
NM_000782.5(CYP24A1):c.990+3A>G rs762830804 0.00001
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
NM_000782.5(CYP24A1):c.*549A>T rs2092618847
NM_000782.5(CYP24A1):c.*80A>G rs560443324
NM_000782.5(CYP24A1):c.*838T>G rs886056782
NM_000782.5(CYP24A1):c.-112T>C rs2092703674
NM_000782.5(CYP24A1):c.-154T>G rs75209626
NM_000782.5(CYP24A1):c.-17C>T rs886056790
NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu) rs1227845728
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.1254T>C (p.Asn418=) rs2092633894
NM_000782.5(CYP24A1):c.1268G>T (p.Gly423Val) rs2146464297
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu) rs886056786
NM_000782.5(CYP24A1):c.1426_1427del (p.Cys477fs) rs876657376
NM_000782.5(CYP24A1):c.1513C>G (p.Arg505Gly) rs773181675
NM_000782.5(CYP24A1):c.1518A>T (p.Glu506Asp) rs775698372
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
NM_000782.5(CYP24A1):c.259-5T>C rs372360343
NM_000782.5(CYP24A1):c.295A>G (p.Met99Val) rs886056789
NM_000782.5(CYP24A1):c.359G>T (p.Arg120Leu) rs114476330
NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)
NM_000782.5(CYP24A1):c.366G>T (p.Glu122Asp)
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.449+2dup rs2092698761
NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter) rs387907323
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln) rs387907322
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000782.5(CYP24A1):c.641-1G>A
NM_000782.5(CYP24A1):c.685A>T (p.Lys229Ter) rs2146489987
NM_000782.5(CYP24A1):c.833T>C (p.Ile278Thr) rs2092663565
NM_000782.5(CYP24A1):c.861C>A (p.Asp287Glu) rs886056788
NM_000782.5(CYP24A1):c.948G>T (p.Leu316Phe)
NM_000782.5(CYP24A1):c.991-9G>A rs886056787

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