ClinVar Miner

List of variants studied for chromosomal disorder by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter) rs769350713 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_022455.5(NSD1):c.108A>G (p.Gln36=) rs549091873 0.00001
NM_022455.5(NSD1):c.1237-10T>C rs587784070 0.00001
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys) rs587784074 0.00001
NM_022455.5(NSD1):c.2925C>T (p.Ser975=) rs587784090 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe) rs607159
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
NM_022455.4(NSD1):c.5408_5411delACTAins9
NM_022455.5(NSD1):c.1077del (p.Arg359fs) rs587784068
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) rs587784071
NM_022455.5(NSD1):c.1264dup (p.Glu422fs) rs797045804
NM_022455.5(NSD1):c.1428G>A (p.Leu476=) rs587784072
NM_022455.5(NSD1):c.1456del (p.Ser486fs) rs587784073
NM_022455.5(NSD1):c.1802dup (p.Cys602fs) rs797045805
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs) rs587784078
NM_022455.5(NSD1):c.2048del (p.Lys683fs) rs587784079
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.5(NSD1):c.2064del (p.Arg688fs) rs587784081
NM_022455.5(NSD1):c.2124_2127del (p.His708fs) rs587784082
NM_022455.5(NSD1):c.2167dup (p.Thr723fs) rs797045807
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs) rs797045808
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter) rs587784084
NM_022455.5(NSD1):c.2295del (p.Ser766fs) rs587784085
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter) rs201327209
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2639del (p.Gly880fs) rs587784087
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter) rs587784088
NM_022455.5(NSD1):c.2827del (p.Asp943fs) rs587784089
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter) rs797045809
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.2956del (p.Ala986fs) rs587784093
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs) rs587784094
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs) rs797045810
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs) rs587784097
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs) rs797045811
NM_022455.5(NSD1):c.3293del (p.Thr1098fs) rs587784099
NM_022455.5(NSD1):c.3295del (p.Ser1099fs) rs587784100
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs) rs797045812
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs) rs587784103
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs) rs797045814
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3922-2_3925delinsG rs1554195815
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs) rs797045815
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly) rs587784108
NM_022455.5(NSD1):c.4020del (p.Glu1341fs) rs797045816
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) rs587784109
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) rs587784110
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs) rs797045817
NM_022455.5(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs) rs587784112
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu) rs587784113
NM_022455.5(NSD1):c.4376del (p.Gly1459fs) rs587784114
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4378+7A>G rs587784116
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter) rs587784118
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs) rs797045819
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter) rs587784119
NM_022455.5(NSD1):c.4498-3A>G rs587784120
NM_022455.5(NSD1):c.4529del (p.Ser1510fs) rs587784121
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) rs587784122
NM_022455.5(NSD1):c.4705del (p.Glu1569fs) rs587784123
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs) rs587784124
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs) rs797045820
NM_022455.5(NSD1):c.4745del (p.Ile1582fs) rs587784125
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser) rs587784128
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly) rs587784128
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs) rs797045821
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.5(NSD1):c.4966+1G>A rs587784131
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys) rs587784132
NM_022455.5(NSD1):c.4967-2A>T rs587784133
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter) rs587784138
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter) rs587784142
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu) rs587784143
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs) rs587784145
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter) rs797045823
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter) rs587784147
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln) rs587784149
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter) rs587784151
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) rs587784152
NM_022455.5(NSD1):c.5712del (p.Cys1905fs) rs587784153
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs) rs797045824
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter) rs587784157
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter) rs587784158
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro) rs587784159
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys) rs587784160
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5893-2A>G rs587784163
NM_022455.5(NSD1):c.5903del (p.Val1968fs) rs587784164
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs) rs587784165
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter) rs587784168
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs) rs797045826
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs) rs797045827
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter) rs587784183
NM_022455.5(NSD1):c.6165del (p.Phe2056fs) rs587784184
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs) rs797045828
NM_022455.5(NSD1):c.6258+1G>A rs587784185
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs) rs797045829
NM_022455.5(NSD1):c.6291del (p.Lys2098fs) rs587784186
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter) rs587784187
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs) rs797045830
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter) rs587784188
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs) rs587784189
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs) rs797045831
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val) rs587784193
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.5(NSD1):c.6431del (p.Ala2144fs) rs587784198
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6459_6463+5del rs797045832
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter) rs587784201
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr) rs587784202
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs) rs587784207
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer) rs797045833
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser) rs587784210
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val) rs587784212
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) rs587784213
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His) rs587784214
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=) rs587784215
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter) rs797045834
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs) rs587784219
NM_022455.5(NSD1):c.8036del (p.Pro2679fs) rs587784220
NM_022455.5(NSD1):c.8043del (p.Asn2682fs) rs587784221
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772

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.