ClinVar Miner

List of variants studied for Woodhouse-Sakati syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.*2340C>T rs888428 0.97908
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_025000.4(DCAF17):c.*2795T>C rs17221346 0.24511
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_025000.4(DCAF17):c.*3112C>G rs17221367 0.19832
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.*570G>A rs3795998 0.19821
NM_025000.4(DCAF17):c.*3703A>G rs9789572 0.19820
NM_025000.4(DCAF17):c.*676T>G rs3821084 0.19818
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_025000.4(DCAF17):c.*2425T>A rs12151641 0.19764
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491 0.04289
NM_025000.4(DCAF17):c.*2473G>A rs57999878 0.04194
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_025000.4(DCAF17):c.*350G>A rs3795996 0.03008
NM_025000.4(DCAF17):c.*188T>A rs142315519 0.02083
NM_025000.4(DCAF17):c.*3829G>A rs59827170 0.01646
NM_025000.4(DCAF17):c.*2183C>G rs73976170 0.01636
NM_025000.4(DCAF17):c.*1005A>G rs73976168 0.01517
NM_025000.4(DCAF17):c.*3712A>G rs74780004 0.01515
NM_025000.4(DCAF17):c.*2348G>A rs112519318 0.01011
NM_025000.4(DCAF17):c.*1521A>G rs77176791 0.00434
NM_025000.4(DCAF17):c.*677C>A rs115798465 0.00417
NM_025000.4(DCAF17):c.*1841G>T rs114519296 0.00399
NM_025000.4(DCAF17):c.-204C>T rs147113116 0.00309
NM_025000.4(DCAF17):c.*530A>G rs115676571 0.00277
NM_025000.4(DCAF17):c.127-15C>A rs146556466 0.00184
NM_025000.4(DCAF17):c.-111G>T rs80336595 0.00176
NM_025000.4(DCAF17):c.*2303G>A rs186143382 0.00175
NM_025000.4(DCAF17):c.*3022A>G rs75833923 0.00168
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=) rs3731980 0.00143
NM_025000.4(DCAF17):c.*1034G>A rs3731979 0.00114
NM_025000.4(DCAF17):c.*378T>C rs3795997 0.00114
NM_025000.4(DCAF17):c.*2971A>G rs576169953 0.00113
NM_025000.4(DCAF17):c.*1370C>T rs565065854 0.00085
NM_025000.4(DCAF17):c.*2976A>G rs78561668 0.00077
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600 0.00064
NM_025000.4(DCAF17):c.*1692G>C rs903874983 0.00059
NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr) rs149650431 0.00059
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864 0.00057
NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys) rs201346228 0.00057
NM_025000.4(DCAF17):c.*1965A>G rs569108215 0.00051
NM_025000.4(DCAF17):c.*2312G>A rs777311799 0.00043
NM_025000.4(DCAF17):c.*2591A>G rs748228250 0.00043
NM_025000.4(DCAF17):c.*2429A>G rs778932293 0.00041
NM_025000.4(DCAF17):c.1426T>C (p.Tyr476His) rs142735693 0.00039
NM_025000.4(DCAF17):c.913A>G (p.Ile305Val) rs114419034 0.00029
NM_025000.4(DCAF17):c.*15T>C rs146258833 0.00024
NM_025000.4(DCAF17):c.209A>G (p.Asn70Ser) rs200380164 0.00024
NM_025000.4(DCAF17):c.*3880G>T rs754667938 0.00023
NM_025000.4(DCAF17):c.*1747C>A rs747014569 0.00022
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211 0.00022
NM_025000.4(DCAF17):c.*926G>T rs62183509 0.00019
NM_025000.4(DCAF17):c.*1124G>A rs779974974 0.00017
NM_025000.4(DCAF17):c.*2113C>A rs139529937 0.00016
NM_025000.4(DCAF17):c.*2943C>T rs965835850 0.00016
NM_025000.4(DCAF17):c.*2380A>G rs553179661 0.00011
NM_025000.4(DCAF17):c.*126A>T rs139116642 0.00009
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) rs200189652 0.00009
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu) rs150095386 0.00008
NM_025000.4(DCAF17):c.1266+6G>A rs557741620 0.00007
NM_025000.4(DCAF17):c.1422+14G>A rs368707741 0.00007
NM_025000.4(DCAF17):c.581G>A (p.Arg194Gln) rs371230892 0.00007
NM_025000.4(DCAF17):c.*1531T>C rs537066061 0.00006
NM_025000.4(DCAF17):c.*2747C>T rs886055116 0.00006
NM_025000.3(DCAF17):c.*3946G>A rs776729717 0.00005
NM_025000.4(DCAF17):c.-232C>T rs1007006126 0.00005
NM_025000.4(DCAF17):c.*2292G>A rs373833929 0.00004
NM_025000.4(DCAF17):c.*3705A>G rs577520268 0.00003
NM_025000.4(DCAF17):c.214C>T (p.Arg72Trp) rs886055106 0.00003
NM_025000.4(DCAF17):c.*1120A>T rs1281715681 0.00002
NM_025000.4(DCAF17):c.*211C>A rs974336214 0.00002
NM_025000.4(DCAF17):c.*2202A>G rs886055114 0.00002
NM_025000.4(DCAF17):c.230+15A>G rs778241115 0.00002
NM_025000.4(DCAF17):c.*105A>G rs551802113 0.00001
NM_025000.4(DCAF17):c.*153C>G rs1478413852 0.00001
NM_025000.4(DCAF17):c.*1540C>T rs1398582890 0.00001
NM_025000.4(DCAF17):c.*1557T>A rs920241912 0.00001
NM_025000.4(DCAF17):c.*2241T>C rs1309335857 0.00001
NM_025000.4(DCAF17):c.*2535C>A rs1339928313 0.00001
NM_025000.4(DCAF17):c.*2947A>C rs972785459 0.00001
NM_025000.4(DCAF17):c.*3551C>T rs947332859 0.00001
NM_025000.4(DCAF17):c.*423T>C rs1317171792 0.00001
NM_025000.4(DCAF17):c.*432C>G rs772229487 0.00001
NM_025000.4(DCAF17):c.*48A>T rs753380867 0.00001
NM_025000.4(DCAF17):c.*876G>C rs370150751 0.00001
NM_025000.4(DCAF17):c.-206C>G rs886055103 0.00001
NM_025000.4(DCAF17):c.-212C>T rs1350956940 0.00001
NM_025000.4(DCAF17):c.-213C>T rs377182072 0.00001
NM_025000.4(DCAF17):c.-9C>G rs886055105 0.00001
NM_025000.4(DCAF17):c.1091+13A>G rs886055107 0.00001
NM_025000.4(DCAF17):c.137A>T (p.Lys46Ile) rs375426959 0.00001
NM_025000.4(DCAF17):c.*1165C>G rs886055109
NM_025000.4(DCAF17):c.*1258dup rs745661005
NM_025000.4(DCAF17):c.*1485AG[1] rs886055111
NM_025000.4(DCAF17):c.*1565del rs560178345
NM_025000.4(DCAF17):c.*2066A>G rs886055113
NM_025000.4(DCAF17):c.*2318C>T rs1696824875
NM_025000.4(DCAF17):c.*2623T>G rs886055115
NM_025000.4(DCAF17):c.*2775G>T rs16859404
NM_025000.4(DCAF17):c.*2965TTC[3] rs886055117
NM_025000.4(DCAF17):c.*3008TTGT[1] rs374810983
NM_025000.4(DCAF17):c.*3107A>G rs1696862024
NM_025000.4(DCAF17):c.*3170A>G rs865846361
NM_025000.4(DCAF17):c.*3453A>G rs747674263
NM_025000.4(DCAF17):c.*3811A>G rs1696888826
NM_025000.4(DCAF17):c.*3835A>G rs886055119
NM_025000.4(DCAF17):c.*808T>A rs886055108
NM_025000.4(DCAF17):c.*864A>G rs1696764439
NM_025000.4(DCAF17):c.-198T>C rs886055104
NM_025000.4(DCAF17):c.-222G>A rs1693603245
NM_025000.4(DCAF17):c.-243C>G rs886055102
NM_025000.4(DCAF17):c.1266+4T>C rs1696579172
NM_025000.4(DCAF17):c.133A>G (p.Thr45Ala) rs758636084
NM_025000.4(DCAF17):c.181T>C (p.Tyr61His) rs1321628221
NM_025000.4(DCAF17):c.959G>T (p.Cys320Phe) rs1696082466
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.986A>C (p.Lys329Thr) rs1363225398

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