ClinVar Miner

List of variants in gene CYP27A1 reported by GeneDx

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Gene type:
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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.255+327G>A rs4674338 0.36707
NM_000784.4(CYP27A1):c.256-150A>C rs691968 0.11485
NM_000784.4(CYP27A1):c.1184+55A>C rs73991002 0.08145
NM_000784.4(CYP27A1):c.256-296G>T rs691960 0.07186
NM_000784.4(CYP27A1):c.255+295A>G rs4646534 0.07010
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000784.4(CYP27A1):c.256-138G>A rs1177256281 0.03363
NM_000784.4(CYP27A1):c.256-140_256-139insCG rs201420982 0.03245
NM_000784.4(CYP27A1):c.256-139T>C rs34336949 0.02264
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000784.4(CYP27A1):c.446+223A>G rs115054657 0.01386
NM_000784.4(CYP27A1):c.255+87G>A rs78706879 0.01150
NC_000002.12:g.218781406T>C rs147477169 0.00811
NM_000784.4(CYP27A1):c.1018-251C>T rs114013731 0.00808
NM_000784.4(CYP27A1):c.1018-186C>T rs114660195 0.00788
NM_000784.4(CYP27A1):c.1476+72G>A rs116288589 0.00764
NM_000784.4(CYP27A1):c.447-141T>G rs11891257 0.00716
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000784.4(CYP27A1):c.256-142C>T rs187493096 0.00575
NM_000784.4(CYP27A1):c.255+193A>C rs78672392 0.00568
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NC_000002.12:g.218781575A>G rs145194389 0.00496
NC_000002.12:g.218781609G>T rs150590414 0.00466
NM_000784.4(CYP27A1):c.1017+37G>C rs139862044 0.00459
NM_000784.4(CYP27A1):c.256-137_256-126del rs1440895357 0.00423
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NC_000002.12:g.218781453C>T rs139710471 0.00360
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_000784.4(CYP27A1):c.256-125_256-124insAC rs1228333852 0.00350
NM_000784.4(CYP27A1):c.446+199G>T rs146574215 0.00290
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 0.00008
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NC_000002.12:g.218781638del rs10713583
NC_000002.12:g.218781747T>C rs114345604
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) rs886043512
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.256-136C>A rs34546624
NM_000784.4(CYP27A1):c.256-136C>T rs34546624
NM_000784.4(CYP27A1):c.256-137C>T rs35745741
NM_000784.4(CYP27A1):c.256-138_256-137insTA rs1559391300
NM_000784.4(CYP27A1):c.447-192C>T rs77127330
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318

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