ClinVar Miner

List of variants reported as likely benign for Woodhouse-Sakati syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_025000.4(DCAF17):c.*677C>A rs115798465 0.00417
NM_025000.4(DCAF17):c.*530A>G rs115676571 0.00277
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600 0.00064
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864 0.00057
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.*15T>C rs146258833 0.00024
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211 0.00022
NM_025000.4(DCAF17):c.138A>G (p.Lys46=) rs191203387 0.00012
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) rs200189652 0.00009
NM_025000.4(DCAF17):c.1083T>C (p.Asn361=) rs193214847 0.00008
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.1287T>C (p.Tyr429=) rs145955312 0.00006
NM_025000.4(DCAF17):c.981+10del rs760680285 0.00004
NM_025000.4(DCAF17):c.*3705A>G rs577520268 0.00003
NM_025000.4(DCAF17):c.180C>T (p.Ala60=) rs559441907 0.00002
NM_025000.4(DCAF17):c.230+15A>G rs778241115 0.00002
NM_025000.4(DCAF17):c.322-20A>C rs568712419 0.00002
NM_025000.4(DCAF17):c.1053T>C (p.Ala351=) rs1574398684 0.00001
NM_025000.4(DCAF17):c.1183-5G>T rs762875945 0.00001
NM_025000.4(DCAF17):c.1183-6T>C rs587780328 0.00001
NM_025000.4(DCAF17):c.1212T>G (p.Ser404=) rs141121608 0.00001
NM_025000.4(DCAF17):c.1332A>T (p.Ile444=) rs370984688 0.00001
NM_025000.4(DCAF17):c.1533A>G (p.Glu511=) rs375191229 0.00001
NM_025000.4(DCAF17):c.321+17G>A rs1301588115 0.00001
NM_025000.4(DCAF17):c.708T>C (p.Tyr236=) rs1695361840 0.00001
NM_025000.4(DCAF17):c.838+14A>G rs374359784 0.00001
NM_025000.4(DCAF17):c.1047T>C (p.Pro349=)
NM_025000.4(DCAF17):c.106C>T (p.Leu36=) rs1693699845
NM_025000.4(DCAF17):c.1071T>C (p.His357=)
NM_025000.4(DCAF17):c.1091+17G>A
NM_025000.4(DCAF17):c.1091+19A>G
NM_025000.4(DCAF17):c.1092-10C>T
NM_025000.4(DCAF17):c.1092-8C>G
NM_025000.4(DCAF17):c.109C>A (p.Arg37=)
NM_025000.4(DCAF17):c.115C>T (p.Leu39=)
NM_025000.4(DCAF17):c.1182+13T>A
NM_025000.4(DCAF17):c.1182+13T>G
NM_025000.4(DCAF17):c.1182+18T>C
NM_025000.4(DCAF17):c.1182+7C>A
NM_025000.4(DCAF17):c.1182+7C>T
NM_025000.4(DCAF17):c.1183-13T>C
NM_025000.4(DCAF17):c.1183-4A>G
NM_025000.4(DCAF17):c.1183-4A>T
NM_025000.4(DCAF17):c.1183-7A>C
NM_025000.4(DCAF17):c.1183-7A>G
NM_025000.4(DCAF17):c.1183-9A>C
NM_025000.4(DCAF17):c.1183-9A>G
NM_025000.4(DCAF17):c.1200T>A (p.Thr400=)
NM_025000.4(DCAF17):c.1224A>T (p.Val408=) rs993840619
NM_025000.4(DCAF17):c.126+11G>A
NM_025000.4(DCAF17):c.126+11G>C
NM_025000.4(DCAF17):c.126+12C>G
NM_025000.4(DCAF17):c.126+15G>A
NM_025000.4(DCAF17):c.126+17C>T
NM_025000.4(DCAF17):c.126+18G>A
NM_025000.4(DCAF17):c.126+19_126+36dup
NM_025000.4(DCAF17):c.126+7G>C
NM_025000.4(DCAF17):c.1266+13C>T
NM_025000.4(DCAF17):c.1266+15A>G
NM_025000.4(DCAF17):c.1266+17A>G
NM_025000.4(DCAF17):c.1266+19A>G
NM_025000.4(DCAF17):c.1266+20T>A
NM_025000.4(DCAF17):c.1267-13A>G
NM_025000.4(DCAF17):c.1267-17A>G
NM_025000.4(DCAF17):c.1267-18TATC[2]
NM_025000.4(DCAF17):c.1267-9A>G
NM_025000.4(DCAF17):c.127-11A>G
NM_025000.4(DCAF17):c.127-15C>T
NM_025000.4(DCAF17):c.127-18A>G
NM_025000.4(DCAF17):c.1275A>G (p.Lys425=)
NM_025000.4(DCAF17):c.1278T>C (p.Ile426=)
NM_025000.4(DCAF17):c.1284C>T (p.Asp428=)
NM_025000.4(DCAF17):c.1350T>A (p.Ala450=)
NM_025000.4(DCAF17):c.135T>C (p.Thr45=)
NM_025000.4(DCAF17):c.1395C>T (p.Ser465=)
NM_025000.4(DCAF17):c.1401A>G (p.Pro467=)
NM_025000.4(DCAF17):c.1422+13C>T
NM_025000.4(DCAF17):c.1422+17G>A
NM_025000.4(DCAF17):c.1422+18G>A
NM_025000.4(DCAF17):c.1422+18G>T
NM_025000.4(DCAF17):c.1422+19A>G rs745818094
NM_025000.4(DCAF17):c.1422+19A>T
NM_025000.4(DCAF17):c.1422+8G>T
NM_025000.4(DCAF17):c.1423-14G>A
NM_025000.4(DCAF17):c.1423-4A>G
NM_025000.4(DCAF17):c.1423-7G>T
NM_025000.4(DCAF17):c.1425A>G (p.Thr475=)
NM_025000.4(DCAF17):c.1428T>C (p.Tyr476=)
NM_025000.4(DCAF17):c.1440C>G (p.Val480=) rs763716716
NM_025000.4(DCAF17):c.1458G>A (p.Leu486=)
NM_025000.4(DCAF17):c.1467C>T (p.His489=)
NM_025000.4(DCAF17):c.1473G>A (p.Glu491=) rs1325785761
NM_025000.4(DCAF17):c.1512G>A (p.Gln504=)
NM_025000.4(DCAF17):c.1527T>G (p.Thr509=)
NM_025000.4(DCAF17):c.1530G>C (p.Gly510=)
NM_025000.4(DCAF17):c.1557C>T (p.Ser519=)
NM_025000.4(DCAF17):c.1560T>C (p.Cys520=)
NM_025000.4(DCAF17):c.16A>C (p.Lys6Gln)
NM_025000.4(DCAF17):c.174T>C (p.Pro58=)
NM_025000.4(DCAF17):c.180C>G (p.Ala60=)
NM_025000.4(DCAF17):c.207C>T (p.Asp69=)
NM_025000.4(DCAF17):c.210T>C (p.Asn70=)
NM_025000.4(DCAF17):c.214C>A (p.Arg72=)
NM_025000.4(DCAF17):c.21C>G (p.Pro7=)
NM_025000.4(DCAF17):c.21C>T (p.Pro7=)
NM_025000.4(DCAF17):c.230+11A>G
NM_025000.4(DCAF17):c.230+13T>C
NM_025000.4(DCAF17):c.230+14del
NM_025000.4(DCAF17):c.230+17_230+18insT
NM_025000.4(DCAF17):c.230+18A>T
NM_025000.4(DCAF17):c.230+9_230+10del
NM_025000.4(DCAF17):c.231-4C>T
NM_025000.4(DCAF17):c.231-7T>C rs759690510
NM_025000.4(DCAF17):c.231-8T>A
NM_025000.4(DCAF17):c.240T>G (p.Ser80=)
NM_025000.4(DCAF17):c.249A>G (p.Arg83=)
NM_025000.4(DCAF17):c.258T>C (p.Tyr86=) rs754236793
NM_025000.4(DCAF17):c.261A>G (p.Glu87=)
NM_025000.4(DCAF17):c.276C>G (p.Ser92=)
NM_025000.4(DCAF17):c.27G>T (p.Val9=)
NM_025000.4(DCAF17):c.294G>A (p.Glu98=)
NM_025000.4(DCAF17):c.300T>A (p.Ala100=)
NM_025000.4(DCAF17):c.306A>G (p.Leu102=)
NM_025000.4(DCAF17):c.321+11T>C
NM_025000.4(DCAF17):c.321+12T>C
NM_025000.4(DCAF17):c.321+13T>A rs1390287931
NM_025000.4(DCAF17):c.321+15T>C
NM_025000.4(DCAF17):c.321+18A>T
NM_025000.4(DCAF17):c.321+20C>A
NM_025000.4(DCAF17):c.321+20C>T rs202131890
NM_025000.4(DCAF17):c.322-12T>C
NM_025000.4(DCAF17):c.322-14_322-11del rs753818890
NM_025000.4(DCAF17):c.322-15T>C
NM_025000.4(DCAF17):c.322-15_322-14insTT rs139655160
NM_025000.4(DCAF17):c.322-16C>T
NM_025000.4(DCAF17):c.322-17_322-16insG
NM_025000.4(DCAF17):c.322-18C>A
NM_025000.4(DCAF17):c.322-19T>C
NM_025000.4(DCAF17):c.322-19TC[2] rs771200708
NM_025000.4(DCAF17):c.322-7T>G rs2105750441
NM_025000.4(DCAF17):c.322-8T>G
NM_025000.4(DCAF17):c.330A>T (p.Ile110=)
NM_025000.4(DCAF17):c.363C>G (p.Leu121=)
NM_025000.4(DCAF17):c.378T>C (p.Ala126=)
NM_025000.4(DCAF17):c.384T>C (p.Asn128=)
NM_025000.4(DCAF17):c.411G>A (p.Thr137=)
NM_025000.4(DCAF17):c.423T>C (p.Leu141=) rs1574340240
NM_025000.4(DCAF17):c.435T>C (p.Tyr145=)
NM_025000.4(DCAF17):c.441A>G (p.Ala147=)
NM_025000.4(DCAF17):c.447T>C (p.Tyr149=)
NM_025000.4(DCAF17):c.458+19T>C
NM_025000.4(DCAF17):c.458+7A>G
NM_025000.4(DCAF17):c.458+8C>T
NM_025000.4(DCAF17):c.459-13A>G
NM_025000.4(DCAF17):c.45C>T (p.Arg15=)
NM_025000.4(DCAF17):c.483A>G (p.Gln161=)
NM_025000.4(DCAF17):c.48G>A (p.Arg16=)
NM_025000.4(DCAF17):c.495A>G (p.Ala165=) rs2105753390
NM_025000.4(DCAF17):c.504A>C (p.Ser168=)
NM_025000.4(DCAF17):c.504A>G (p.Ser168=)
NM_025000.4(DCAF17):c.507T>C (p.Ala169=)
NM_025000.4(DCAF17):c.51G>A (p.Ala17=)
NM_025000.4(DCAF17):c.51G>T (p.Ala17=)
NM_025000.4(DCAF17):c.531C>T (p.Ala177=)
NM_025000.4(DCAF17):c.537+20C>G
NM_025000.4(DCAF17):c.537+7A>G
NM_025000.4(DCAF17):c.537+8_537+21del rs747625728
NM_025000.4(DCAF17):c.538-16T>C
NM_025000.4(DCAF17):c.549A>G (p.Gln183=)
NM_025000.4(DCAF17):c.564G>A (p.Leu188=) rs762999248
NM_025000.4(DCAF17):c.573A>G (p.Ala191=)
NM_025000.4(DCAF17):c.576G>A (p.Val192=)
NM_025000.4(DCAF17):c.576G>C (p.Val192=)
NM_025000.4(DCAF17):c.57C>T (p.Gly19=)
NM_025000.4(DCAF17):c.588A>G (p.Leu196=)
NM_025000.4(DCAF17):c.588A>T (p.Leu196=)
NM_025000.4(DCAF17):c.591T>A (p.Pro197=)
NM_025000.4(DCAF17):c.597A>G (p.Ser199=)
NM_025000.4(DCAF17):c.600T>C (p.Leu200=)
NM_025000.4(DCAF17):c.60C>T (p.Cys20=)
NM_025000.4(DCAF17):c.627+10C>A
NM_025000.4(DCAF17):c.627+17T>C
NM_025000.4(DCAF17):c.627+8C>T rs2105761847
NM_025000.4(DCAF17):c.628-11C>A
NM_025000.4(DCAF17):c.628-20T>C
NM_025000.4(DCAF17):c.628-5G>A
NM_025000.4(DCAF17):c.628-6C>T
NM_025000.4(DCAF17):c.630T>C (p.Ile210=)
NM_025000.4(DCAF17):c.639C>T (p.Asn213=) rs755304811
NM_025000.4(DCAF17):c.654C>G (p.Thr218=)
NM_025000.4(DCAF17):c.69C>T (p.Arg23=)
NM_025000.4(DCAF17):c.702A>G (p.Arg234=)
NM_025000.4(DCAF17):c.705C>G (p.Leu235=)
NM_025000.4(DCAF17):c.723C>T (p.Ile241=)
NM_025000.4(DCAF17):c.732+11C>T
NM_025000.4(DCAF17):c.732+16A>G
NM_025000.4(DCAF17):c.732+18T>G
NM_025000.4(DCAF17):c.732+20G>A
NM_025000.4(DCAF17):c.732+9A>G
NM_025000.4(DCAF17):c.733-16T>C
NM_025000.4(DCAF17):c.733-20T>A
NM_025000.4(DCAF17):c.733-22TTTTG[2] rs775577850
NM_025000.4(DCAF17):c.744G>A (p.Gln248=)
NM_025000.4(DCAF17):c.759G>A (p.Gly253=)
NM_025000.4(DCAF17):c.759G>C (p.Gly253=)
NM_025000.4(DCAF17):c.786T>C (p.Thr262=)
NM_025000.4(DCAF17):c.78C>A (p.Gly26=)
NM_025000.4(DCAF17):c.810T>C (p.Phe270=)
NM_025000.4(DCAF17):c.81G>A (p.Val27=)
NM_025000.4(DCAF17):c.81G>C (p.Val27=)
NM_025000.4(DCAF17):c.838+11del
NM_025000.4(DCAF17):c.838+12C>G
NM_025000.4(DCAF17):c.838+14A>C
NM_025000.4(DCAF17):c.839-9T>C
NM_025000.4(DCAF17):c.861G>A (p.Glu287=)
NM_025000.4(DCAF17):c.864G>A (p.Val288=)
NM_025000.4(DCAF17):c.873G>A (p.Leu291=)
NM_025000.4(DCAF17):c.87G>A (p.Gln29=)
NM_025000.4(DCAF17):c.90G>A (p.Arg30=)
NM_025000.4(DCAF17):c.915C>T (p.Ile305=)
NM_025000.4(DCAF17):c.948T>C (p.Val316=)
NM_025000.4(DCAF17):c.948T>G (p.Val316=)
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.966A>G (p.Leu322=)
NM_025000.4(DCAF17):c.97C>T (p.Leu33=)
NM_025000.4(DCAF17):c.981+15A>G
NM_025000.4(DCAF17):c.981+16G>A
NM_025000.4(DCAF17):c.981+16G>T
NM_025000.4(DCAF17):c.981+22_981+23del
NM_025000.4(DCAF17):c.982-18A>G
NM_025000.4(DCAF17):c.982-20A>T
NM_025000.4(DCAF17):c.9G>T (p.Pro3=)

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