ClinVar Miner

List of variants reported as pathogenic for Wiedemann-Steiner syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001197104.1:c.(4332+1_4333-1)_(6505+1_6506-1)del
NM_001197104.2(KMT2A):c.10051del (p.Thr3351fs)
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) rs2134409720
NM_001197104.2(KMT2A):c.10334dup (p.Ser3446fs) rs863224888
NM_001197104.2(KMT2A):c.10376del (p.Asn3459fs) rs1591286581
NM_001197104.2(KMT2A):c.1038del (p.Val347fs) rs1555035779
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs)
NM_001197104.2(KMT2A):c.11071+1G>A rs1555049702
NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter) rs782477344
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter) rs1555050211
NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs)
NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer) rs1555052879
NM_001197104.2(KMT2A):c.11388del (p.Asn3797fs) rs1950922313
NM_001197104.2(KMT2A):c.1274del (p.Pro425fs) rs2134260983
NM_001197104.2(KMT2A):c.1274dup (p.Arg426fs)
NM_001197104.2(KMT2A):c.1395_1396insG (p.Ser466fs) rs1949960915
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) rs2134153013
NM_001197104.2(KMT2A):c.1660C>T (p.Gln554Ter) rs1949967549
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) rs1555138552
NM_001197104.2(KMT2A):c.1837C>T (p.Arg613Ter) rs2134264638
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) rs1591374984
NM_001197104.2(KMT2A):c.2214_2218del (p.Arg738fs) rs2134266780
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs) rs1064793451
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)
NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter) rs2134269273
NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs)
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs) rs587783676
NM_001197104.2(KMT2A):c.2683A>T (p.Lys895Ter)
NM_001197104.2(KMT2A):c.2690C>G (p.Ser897Ter) rs2134271140
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter) rs1555036801
NM_001197104.2(KMT2A):c.3034C>T (p.Gln1012Ter) rs1565280934
NM_001197104.2(KMT2A):c.3157-7_3161del rs1591379711
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) rs2134282528
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3334+1G>A rs1135401764
NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter) rs1555038029
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) rs1591381084
NM_001197104.2(KMT2A):c.3460C>T (p.Arg1154Trp) rs1555038090
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) rs2134286994
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.2(KMT2A):c.3521T>G (p.Leu1174Ter) rs1555038111
NM_001197104.2(KMT2A):c.3565T>C (p.Cys1189Arg) rs886041875
NM_001197104.2(KMT2A):c.3566G>A (p.Cys1189Tyr) rs1555038125
NM_001197104.2(KMT2A):c.3569+2T>G
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) rs1591383060
NM_001197104.2(KMT2A):c.3634+1G>A rs2134293919
NM_001197104.2(KMT2A):c.3651dup (p.Lys1218fs) rs863224887
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) rs1591384640
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs)
NM_001197104.2(KMT2A):c.4012+2T>A rs1591385183
NM_001197104.2(KMT2A):c.4013-2A>G
NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) rs1591385663
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter) rs1555040446
NM_001197104.2(KMT2A):c.4343G>A (p.Cys1448Tyr) rs1085307857
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter) rs587783678
NM_001197104.2(KMT2A):c.4599dup (p.Lys1534Ter) rs398122881
NM_001197104.2(KMT2A):c.4643_4644insACTCCAGGCAAAGG (p.Trp1549fs)
NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.2(KMT2A):c.4777del (p.Arg1593fs)
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.502+1G>A rs1591371152
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) rs1555035511
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5363+1G>A rs2134351311
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.5455C>T (p.Gln1819Ter) rs2134355176
NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter) rs2134357027
NM_001197104.2(KMT2A):c.5621dup (p.Gln1875fs) rs1555043939
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)
NM_001197104.2(KMT2A):c.572C>A (p.Ser191Ter) rs1591373553
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs) rs2134366416
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs) rs1555035550
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6616C>T (p.Gln2206Ter)
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs) rs797045656
NM_001197104.2(KMT2A):c.6913del (p.Ser2305fs) rs398122880
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) rs2134387390
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter) rs387907275
NM_001197104.2(KMT2A):c.7155del (p.His2385fs) rs2134389341
NM_001197104.2(KMT2A):c.7302dup (p.Ser2435fs)
NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter) rs2134258206
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7553_7565del (p.Pro2518fs)
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001197104.2(KMT2A):c.7597del (p.Glu2533fs) rs2134393031
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) rs1591282224
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter) rs587783679
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) rs1591282615
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) rs1385902057
NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.7990del (p.Ala2664fs) rs2134395799
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001197104.2(KMT2A):c.8149del (p.Ile2717fs) rs1131692268
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) rs2134397119
NM_001197104.2(KMT2A):c.8267del (p.Asn2755_Leu2756insTer) rs398122879
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs)
NM_001197104.2(KMT2A):c.8414_8418del (p.Ser2805fs) rs1591283372
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs) rs1950551811
NM_001197104.2(KMT2A):c.8806_8809del (p.Ser2935_Val2936insTer) rs398122878
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)
NM_001197104.2(KMT2A):c.9326_9330del (p.Ser3109fs)
NM_001197104.2(KMT2A):c.934_935insC (p.Ile312fs) rs1591373923
NM_001197104.2(KMT2A):c.9447_9450dup (p.Ser3151fs) rs2134405469
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) rs2134406005
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter) rs1950569353
NM_005445.4(SMC3):c.2536-5_2541del rs727503775
NM_006306.4(SMC1A):c.121C>T (p.Leu41Phe) rs727503776
NM_006306.4(SMC1A):c.2974-2A>G rs727503774
NM_017780.4(CHD7):c.5243T>G (p.Leu1748Arg) rs1586437186

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.