ClinVar Miner

List of variants studied for Steel syndrome

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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.2619+62T>C rs2015408 0.83747
NM_032888.4(COL27A1):c.3609+35C>T rs2636866 0.82482
NM_032888.4(COL27A1):c.2016+192T>C rs10739406 0.81741
NM_032888.4(COL27A1):c.3786T>C (p.Tyr1262=) rs2787330 0.79862
NM_032888.4(COL27A1):c.2170-87T>C rs2567720 0.77655
NM_032888.4(COL27A1):c.2071-23C>T rs2567711 0.75525
NM_032888.4(COL27A1):c.*31C>T rs1249756 0.61961
NM_032888.4(COL27A1):c.3250-136C>T rs1623718 0.49200
NM_032888.4(COL27A1):c.4846-56T>C rs1546049 0.47313
NM_032888.4(COL27A1):c.4476+18A>G rs1249738 0.41582
NM_032888.4(COL27A1):c.3570T>C (p.Leu1190=) rs4143245 0.41521
NM_032888.4(COL27A1):c.4846-17G>A rs1546048 0.37018
NM_032888.4(COL27A1):c.4584+52C>T rs7855288 0.35914
NM_032888.4(COL27A1):c.4873-65C>T rs10817590 0.35476
NM_032888.4(COL27A1):c.2745C>T (p.Ile915=) rs2014134 0.33476
NM_032888.4(COL27A1):c.3610-121A>G rs10513241 0.33179
NM_032888.4(COL27A1):c.1831A>T (p.Ile611Phe) rs2567705 0.33152
NM_032888.4(COL27A1):c.3718-19G>T rs2636879 0.32501
NM_032888.4(COL27A1):c.63-214A>G rs1431821 0.32486
NM_032888.4(COL27A1):c.4061G>A (p.Arg1354Gln) rs10982134 0.31600
NM_032888.4(COL27A1):c.4872+17C>G rs10817586 0.30758
NM_032888.4(COL27A1):c.359A>G (p.Gln120Arg) rs2567706 0.27032
NM_032888.4(COL27A1):c.1610T>C (p.Ile537Thr) rs2808770 0.26941
NM_032888.4(COL27A1):c.1902C>T (p.Gly634=) rs2808771 0.26821
NM_032888.4(COL27A1):c.3718-99A>G rs1628968 0.26000
NM_032888.4(COL27A1):c.4206+39A>G rs1249742 0.21363
NM_032888.4(COL27A1):c.265G>A (p.Val89Ile) rs2567707 0.21138
NM_032888.4(COL27A1):c.3933+128G>A rs1565502 0.20399
NM_032888.4(COL27A1):c.3610-26T>C rs12685514 0.19430
NM_032888.4(COL27A1):c.4083A>G (p.Gly1361=) rs1687410 0.19349
NM_032888.4(COL27A1):c.2071-95C>T rs10982097 0.18362
NM_032888.4(COL27A1):c.2071-25C>T rs2567710 0.17247
NM_032888.4(COL27A1):c.2016+26A>G rs41306500 0.16574
NM_032888.4(COL27A1):c.4152+24C>A rs10817583 0.13859
NM_032888.4(COL27A1):c.3250-39A>G rs41312228 0.11005
NM_032888.4(COL27A1):c.134-148G>A rs10982089 0.07816
NM_032888.4(COL27A1):c.3878C>T (p.Thr1293Met) rs116496505 0.01423
NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln) rs149629527 0.00177
NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His) rs149434700 0.00053
NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser) rs139039113 0.00035
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_032888.4(COL27A1):c.4078C>A (p.Pro1360Thr) rs141452198 0.00021
NM_032888.4(COL27A1):c.4967T>C (p.Leu1656Pro) rs145069844 0.00017
NM_032888.4(COL27A1):c.4441G>A (p.Gly1481Ser) rs200770448 0.00016
NM_032888.4(COL27A1):c.241C>T (p.Arg81Trp) rs143398547 0.00004
NM_032888.4(COL27A1):c.1883G>A (p.Gly628Glu) rs746488198 0.00003
NM_032888.4(COL27A1):c.2326C>G (p.Leu776Val) rs757495761 0.00002
NM_032888.4(COL27A1):c.1895del (p.Asp632fs) rs773501392 0.00001
NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) rs1328051341 0.00001
NM_032888.4(COL27A1):c.3616del (p.Arg1206fs) rs1835450838 0.00001
NM_032888.4(COL27A1):c.4519C>T (p.Arg1507Ter) rs1289391715 0.00001
NM_032888.4(COL27A1):c.4844C>T (p.Pro1615Leu) rs145134644 0.00001
NM_032888.4(COL27A1):c.5215A>G (p.Lys1739Glu) rs1829161753 0.00001
NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe) rs200179131
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) rs1849088219
NM_032888.4(COL27A1):c.1264G>A (p.Ala422Thr) rs2241671
NM_032888.4(COL27A1):c.149A>C (p.Gln50Pro)
NM_032888.4(COL27A1):c.1734_1737dup (p.Pro580fs)
NM_032888.4(COL27A1):c.1963-277T>C rs4979351
NM_032888.4(COL27A1):c.2016+99A>C rs10759688
NM_032888.4(COL27A1):c.2119C>T (p.Arg707Ter) rs1401322428
NM_032888.4(COL27A1):c.211del (p.Gln71fs) rs2490547878
NM_032888.4(COL27A1):c.2148G>T (p.Pro716=) rs13290696
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter) rs1465820080
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=) rs1830319943
NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu) rs1830954329
NM_032888.4(COL27A1):c.2521G>A (p.Gly841Arg) rs1831978153
NM_032888.4(COL27A1):c.2728-1G>A
NM_032888.4(COL27A1):c.2758G>A (p.Asp920Asn)
NM_032888.4(COL27A1):c.2953G>A (p.Gly985Ser)
NM_032888.4(COL27A1):c.3010G>T (p.Glu1004Ter)
NM_032888.4(COL27A1):c.3075del (p.Lys1026fs) rs5900078
NM_032888.4(COL27A1):c.3083dup (p.Met1029fs) rs2135531602
NM_032888.4(COL27A1):c.3294+1G>C rs2135594366
NM_032888.4(COL27A1):c.3556-2A>G rs1554821679
NM_032888.4(COL27A1):c.358C>T (p.Gln120Ter) rs2490550913
NM_032888.4(COL27A1):c.3754G>T (p.Gly1252Cys) rs756515580
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His) rs200928771
NM_032888.4(COL27A1):c.4020del (p.Pro1342fs) rs2131616036
NM_032888.4(COL27A1):c.4060C>T (p.Arg1354Ter) rs753461513
NM_032888.4(COL27A1):c.4152+1G>A rs2131618521
NM_032888.4(COL27A1):c.4206+11C>G rs72762675
NM_032888.4(COL27A1):c.4261-1G>A rs1220881640
NM_032888.4(COL27A1):c.4357dup (p.Ala1453fs) rs1564576546
NM_032888.4(COL27A1):c.4495G>T (p.Gly1499Ter)
NM_032888.4(COL27A1):c.4643C>G (p.Pro1548Arg) rs750599765
NM_032888.4(COL27A1):c.4726dup (p.Leu1576fs)
NM_032888.4(COL27A1):c.4854del (p.Gly1620fs) rs2490365600
NM_032888.4(COL27A1):c.4939_4940del
NM_032888.4(COL27A1):c.4979_4983del (p.Gly1660fs) rs1829064231
NM_032888.4(COL27A1):c.5117G>A (p.Trp1706Ter)
NM_032888.4(COL27A1):c.521_528del (p.Cys174fs) rs1554787559
NM_032888.4(COL27A1):c.600del (p.Lys201fs)
NM_032888.4(COL27A1):c.62+1G>T rs1848097390
NM_032888.4(COL27A1):c.62+1del rs756877794
NM_032888.4(COL27A1):c.62+4A>G rs1848097795
NM_032888.4(COL27A1):c.93del (p.Phe32fs) rs1588550383
NM_032888.4(COL27A1):c.[295G>A;3056C>A]

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