ClinVar Miner

List of variants reported as uncertain significance for Hypercalcemia, infantile, 1 by Illumina Laboratory Services, Illumina

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.*1135C>T rs149240951 0.00215
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.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.385C>A (p.Leu129Met) rs149806586 0.00064
NM_000782.5(CYP24A1):c.*748G>A rs371011704 0.00048
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.-385G>A rs746437890 0.00016
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.*1122A>C rs564857266 0.00008
NM_000782.5(CYP24A1):c.1164G>A (p.Thr388=) rs373504037 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.296T>C (p.Met99Thr) rs748676671 0.00006
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala) rs140851407 0.00006
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.*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.*1288A>G rs543296744 0.00002
NM_000782.5(CYP24A1):c.*317T>C rs181138149 0.00002
NM_000782.5(CYP24A1):c.397C>G (p.Pro133Ala) rs200891772 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.1124C>T (p.Pro375Leu) rs189801930 0.00001
NM_000782.5(CYP24A1):c.1528G>A (p.Ala510Thr) rs1475780594 0.00001
NM_000782.5(CYP24A1):c.376C>T (p.Pro126Ser) rs148084028 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.990+3A>G rs762830804 0.00001
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.-17C>T rs886056790
NM_000782.5(CYP24A1):c.1254T>C (p.Asn418=) rs2092633894
NM_000782.5(CYP24A1):c.1361C>T (p.Pro454Leu) rs886056786
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.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.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.861C>A (p.Asp287Glu) rs886056788
NM_000782.5(CYP24A1):c.991-9G>A rs886056787

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