ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.*2609A>C rs192734396 0.00092
NM_006306.4(SMC1A):c.*2435T>G rs782650092 0.00062
NM_006306.4(SMC1A):c.*488A>G rs956422392 0.00061
NM_006306.4(SMC1A):c.*4382A>G rs906340789 0.00055
NM_006306.4(SMC1A):c.*4443G>A rs782630117 0.00050
NM_006306.4(SMC1A):c.*5355G>A rs782143840 0.00050
NM_006306.4(SMC1A):c.*2948G>T rs183355603 0.00049
NM_006306.4(SMC1A):c.*5489G>T rs1007398058 0.00040
NM_006306.4(SMC1A):c.*1961C>T rs986586627 0.00036
NM_006306.4(SMC1A):c.*578C>T rs782042924 0.00028
NM_006306.4(SMC1A):c.*5946C>T rs972532010 0.00021
NM_006306.4(SMC1A):c.*3777C>G rs41315082 0.00013
NM_006306.4(SMC1A):c.*381A>G rs184957599 0.00011
NM_006306.4(SMC1A):c.*1914A>G rs964056946 0.00010
NM_006306.4(SMC1A):c.*3025C>T rs782139355 0.00010
NM_006306.4(SMC1A):c.*1040G>A rs79382603 0.00005
NM_006306.4(SMC1A):c.*2050T>C rs1057515964 0.00005
NM_006306.4(SMC1A):c.*2225G>A rs1047323522 0.00005
NM_006306.4(SMC1A):c.*4998T>C rs899071356 0.00005
NM_006306.4(SMC1A):c.*2663C>T rs1057515961 0.00004
NM_006306.4(SMC1A):c.*4156A>G rs999754790 0.00004
NM_006306.4(SMC1A):c.*703G>T rs189126241 0.00004
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val) rs1171109209 0.00004
NM_006306.4(SMC1A):c.*4087G>A rs1057515957 0.00003
NM_006306.4(SMC1A):c.*4581T>C rs1057515955 0.00003
NM_006306.4(SMC1A):c.*675A>G rs1415804526 0.00003
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr) rs1034852654 0.00003
NM_006306.4(SMC1A):c.*1934T>C rs1311438037 0.00002
NM_006306.4(SMC1A):c.*3484G>A rs1215730078 0.00002
NM_006306.4(SMC1A):c.*4367T>C rs1003358509 0.00002
NM_006306.4(SMC1A):c.*5197T>C rs782050365 0.00002
NM_006306.4(SMC1A):c.-1C>T rs797044618 0.00002
NM_006306.4(SMC1A):c.-7G>A rs1368401429 0.00002
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.1545+5G>A rs113714434 0.00002
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu) rs376589639 0.00002
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg) rs782728089 0.00002
NM_006306.4(SMC1A):c.*2086T>C rs1173339282 0.00001
NM_006306.4(SMC1A):c.*3596C>T rs2075560234 0.00001
NM_006306.4(SMC1A):c.*3671C>T rs1057515959 0.00001
NM_006306.4(SMC1A):c.*41G>A rs782548345 0.00001
NM_006306.4(SMC1A):c.*5251G>T rs188308804 0.00001
NM_006306.4(SMC1A):c.*5451A>G rs782308559 0.00001
NM_006306.4(SMC1A):c.*5692G>A rs1057515952 0.00001
NM_006306.4(SMC1A):c.*5855G>T rs1289923605 0.00001
NM_006306.4(SMC1A):c.1254+5G>A rs1569358589 0.00001
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln) rs1556890153 0.00001
NM_006306.4(SMC1A):c.1911+7A>G rs2075687773 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln) rs782733394 0.00001
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile) rs1569355048 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 0.00001
NM_006306.4(SMC1A):c.2862+4A>C rs1445281439 0.00001
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile) rs1556887779 0.00001
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr) rs1239033094 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile) rs782084021 0.00001
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe) rs781998306 0.00001
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg) rs1223252947 0.00001
NM_006306.4(SMC1A):c.392G>A (p.Arg131His) rs781903928 0.00001
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val) rs1556890833 0.00001
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser) rs782172948 0.00001
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys) rs782209409 0.00001
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp) rs781812690 0.00001
NC_000023.10:g.(?_53276131)_(53449569_?)dup
NC_000023.10:g.(?_53349595)_(53410194_?)dup
NC_000023.10:g.(?_53349605)_(53410184_?)dup
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53421678)_(53449569_?)dup
NC_000023.10:g.(?_53421698)_(53421808_?)del
NC_000023.10:g.(?_53423127)_(53572142_?)dup
NM_001281463.1(SMC1A):c.-275G>T rs1026058160
NM_006306.4(SMC1A):c.*1028C>T rs1057515967
NM_006306.4(SMC1A):c.*1240A>G rs1057515966
NM_006306.4(SMC1A):c.*1559G>A rs782736361
NM_006306.4(SMC1A):c.*1967C>T rs2075567451
NM_006306.4(SMC1A):c.*2490T>C rs1057515962
NM_006306.4(SMC1A):c.*2936C>T rs782494133
NM_006306.4(SMC1A):c.*3305A>G rs1057515960
NM_006306.4(SMC1A):c.*3392T>C rs2075561045
NM_006306.4(SMC1A):c.*3807G>A rs1057515958
NM_006306.4(SMC1A):c.*5051G>T rs2075555081
NM_006306.4(SMC1A):c.*5352C>T rs1057515953
NM_006306.4(SMC1A):c.*5443C>G rs375348750
NM_006306.4(SMC1A):c.*5506A>T rs2075553176
NM_006306.4(SMC1A):c.*5722A>T rs2075552232
NM_006306.4(SMC1A):c.*5853A>G rs2075551728
NM_006306.4(SMC1A):c.*5915T>C rs1057515951
NM_006306.4(SMC1A):c.*626A>G rs1057515970
NM_006306.4(SMC1A):c.*665A>G rs1057515969
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)
NM_006306.4(SMC1A):c.1114-3C>T
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln)
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1149C>G (p.Ser383Arg)
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu) rs2075714342
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn) rs2075714119
NM_006306.4(SMC1A):c.1213G>A (p.Asp405Asn)
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln) rs781890390
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=) rs2075703211
NM_006306.4(SMC1A):c.1338-4G>C
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg)
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala)
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)
NM_006306.4(SMC1A):c.140T>G (p.Phe47Cys) rs1569359530
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly) rs2146602338
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro) rs2075701962
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1546-10C>G rs2146600160
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His) rs2146600129
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)
NM_006306.4(SMC1A):c.1665C>G (p.Asp555Glu)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln) rs2075689185
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg) rs2075689167
NM_006306.4(SMC1A):c.1695G>T (p.Gly565=)
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys) rs2146600005
NM_006306.4(SMC1A):c.1731+3G>T rs2075688980
NM_006306.4(SMC1A):c.1799A>T (p.Tyr600Phe)
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser) rs2146599772
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val) rs782196047
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu) rs1369059288
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His) rs2146599709
NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr)
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=) rs2075687850
NM_006306.4(SMC1A):c.1961G>T (p.Gly654Val)
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=) rs2075686281
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val) rs2075686262
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys) rs2075686139
NM_006306.4(SMC1A):c.2156T>C (p.Leu719Pro)
NM_006306.4(SMC1A):c.2171C>T (p.Thr724Ile)
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)
NM_006306.4(SMC1A):c.2299_2301del (p.Glu767del)
NM_006306.4(SMC1A):c.2313+3T>G rs782384493
NM_006306.4(SMC1A):c.2314-15G>A rs2146598343
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu) rs2075680361
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn) rs2075680329
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)
NM_006306.4(SMC1A):c.2420+5G>A rs1556889217
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.2498A>G (p.Asp833Gly)
NM_006306.4(SMC1A):c.2509A>T (p.Met837Leu)
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro)
NM_006306.4(SMC1A):c.2560A>C (p.Lys854Gln)
NM_006306.4(SMC1A):c.2563-3C>G
NM_006306.4(SMC1A):c.2563-3C>T
NM_006306.4(SMC1A):c.2585T>C (p.Ile862Thr)
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del) rs1569359505
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr)
NM_006306.4(SMC1A):c.2671A>G (p.Met891Val) rs2146593592
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2708+7G>A
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg) rs1569355072
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile) rs2146593520
NM_006306.4(SMC1A):c.2727G>T (p.Gln909His)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del) rs2075651266
NM_006306.4(SMC1A):c.2753A>C (p.Lys918Thr)
NM_006306.4(SMC1A):c.2777G>A (p.Arg926His)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro) rs2146593453
NM_006306.4(SMC1A):c.2794G>A (p.Ala932Thr)
NM_006306.4(SMC1A):c.2862+4A>G rs1445281439
NM_006306.4(SMC1A):c.2873A>G (p.Gln958Arg) rs1253991330
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val) rs2146592435
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu) rs2146592426
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly)
NM_006306.4(SMC1A):c.2912G>T (p.Ser971Ile)
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)
NM_006306.4(SMC1A):c.2966A>T (p.Asp989Val)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=) rs2075644860
NM_006306.4(SMC1A):c.2974-9G>A rs2146583272
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg) rs781817923
NM_006306.4(SMC1A):c.298G>C (p.Gly100Arg) rs1569359487
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala) rs2146606564
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg) rs2075591743
NM_006306.4(SMC1A):c.3056G>A (p.Arg1019His)
NM_006306.4(SMC1A):c.3131-13T>G rs1273874101
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys) rs1057521921
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly) rs2075588188
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe) rs2146582586
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala) rs1602398590
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met) rs587784417
NM_006306.4(SMC1A):c.3280G>A (p.Ala1094Thr)
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser) rs2146582465
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.3436A>C (p.Ser1146Arg)
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val) rs2146614101
NM_006306.4(SMC1A):c.3507+3G>A rs1556885809
NM_006306.4(SMC1A):c.3507+5G>A
NM_006306.4(SMC1A):c.3530A>G (p.Gln1177Arg)
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val) rs2146581303
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=) rs2146581022
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)
NM_006306.4(SMC1A):c.3655G>A (p.Asp1219Asn)
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla) rs2075576498
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala) rs2146580992
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln) rs2075764777
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser) rs2146605688
NM_006306.4(SMC1A):c.479G>A (p.Arg160His)
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln) rs2075720519
NM_006306.4(SMC1A):c.526G>A (p.Val176Met)
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys) rs2146605558
NM_006306.4(SMC1A):c.578C>T (p.Ala193Val)
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)
NM_006306.4(SMC1A):c.739A>G (p.Lys247Glu)
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del) rs2146605357
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu) rs370671274
NM_006306.4(SMC1A):c.764G>C (p.Arg255Pro)
NM_006306.4(SMC1A):c.773A>G (p.Lys258Arg)
NM_006306.4(SMC1A):c.800A>G (p.Lys267Arg)
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp) rs2146605306
NM_006306.4(SMC1A):c.824G>A (p.Arg275Gln)
NM_006306.4(SMC1A):c.859_861del (p.Lys287del) rs1556890626
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr) rs2146604807
NM_006306.4(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys)
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro) rs782449052

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