ClinVar Miner

List of variants reported as pathogenic for Sotos syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000005.9:g.(?_176289625)_(177151363_?)del
NC_000005.9:g.(?_176638041)_(176722460_?)del
NC_000005.9:g.(?_176720813)_(176722460_?)del
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val) rs2149836269
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter) rs1763175962
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter) rs1270264665
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1760del (p.Gly587fs) rs1581316964
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter) rs1763225156
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter) rs1481136060
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs) rs2149844461
NM_022455.5(NSD1):c.2097dup (p.Gln700fs) rs1763249718
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs) rs2149844773
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs) rs2149845831
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2674del (p.Ser892fs) rs2149846018
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) rs2149846283
NM_022455.5(NSD1):c.3031del (p.Ser1011fs) rs2149846959
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
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.3145_3146dup (p.Thr1050fs) rs797045810
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3254del (p.Pro1085fs) rs2149847798
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3687del (p.Ala1230fs) rs2149849204
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter) rs2149849285
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs) rs1763397145
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3868del (p.Gln1290fs) rs1554195302
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.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter) rs2149887293
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) rs587784110
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) rs1581408152
NM_022455.5(NSD1):c.4124del (p.Val1375fs) rs1765618844
NM_022455.5(NSD1):c.4216del (p.Arg1406fs) rs1765712615
NM_022455.5(NSD1):c.4303-3T>G
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
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.4514dup (p.His1505fs) rs2149899468
NM_022455.5(NSD1):c.4569del (p.Met1525fs) rs2149899647
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter) rs2149904394
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs) rs2149904428
NM_022455.5(NSD1):c.4702del (p.Leu1568fs) rs1755987983
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) rs1756522180
NM_022455.5(NSD1):c.4883del (p.Met1628fs) rs2149912535
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu) rs2149917734
NM_022455.5(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) rs2149918110
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg) rs1554201713
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln) rs2149931088
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer) rs1757602433
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) rs1581491984
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn) rs2149934255
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter) rs1757804086
NM_022455.5(NSD1):c.5509+2T>G rs1581497997
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs) rs2127241978
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.5684G>A (p.Cys1895Tyr) rs1758796866
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer) rs2127257218
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter) rs1581527915
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala) rs2127257578
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5892+1G>T rs886039579
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
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.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg) rs2127263172
NM_022455.5(NSD1):c.6152-5T>G rs755758018
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) rs1759550773
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs) rs2127276046
NM_022455.5(NSD1):c.6294del (p.Lys2098fs) rs2127276076
NM_022455.5(NSD1):c.6317del (p.Lys2106fs) rs1562305497
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6391dup (p.Val2131fs) rs2127276417
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.5(NSD1):c.6431del (p.Ala2144fs) rs587784198
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs) rs2127276655
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser) rs1760056582
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs) rs1760057409
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg) rs1760058101
NM_022455.5(NSD1):c.6543del (p.Cys2183fs) rs1760062897
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
NM_022455.5(NSD1):c.7603del (p.Gln2535fs) rs2127283690
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter) rs749416834
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter) rs1554185405

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