ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly sequence

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
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HGVS dbSNP
NM_000193.3(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_000264.4(PTCH1):c.*1075A>C rs1020973772
NM_000264.4(PTCH1):c.*1220A>G rs930382710
NM_000264.4(PTCH1):c.*1358G>A rs756098510
NM_000264.4(PTCH1):c.*1413C>G rs1057515714
NM_000264.4(PTCH1):c.*1648A>G rs1057515713
NM_000264.4(PTCH1):c.*168C>A rs769353632
NM_000264.4(PTCH1):c.*186T>G rs977327674
NM_000264.4(PTCH1):c.*1878_*1883dup rs59205702
NM_000264.4(PTCH1):c.*1896T>C rs949498288
NM_000264.4(PTCH1):c.*1904T>C rs992648722
NM_000264.4(PTCH1):c.*2146A>G rs538345753
NM_000264.4(PTCH1):c.*2276A>T rs868749157
NM_000264.4(PTCH1):c.*2288dup rs548096592
NM_000264.4(PTCH1):c.*2644A>C rs773680534
NM_000264.4(PTCH1):c.*3080G>T rs1006981555
NM_000264.4(PTCH1):c.*3209T>C rs757611119
NM_000264.4(PTCH1):c.*3213T>C rs992312438
NM_000264.4(PTCH1):c.*3272C>T rs963000528
NM_000264.4(PTCH1):c.*3337T>C rs551093780
NM_000264.4(PTCH1):c.*556G>A rs964764151
NM_000264.4(PTCH1):c.*623C>T rs776158552
NM_000264.4(PTCH1):c.-78G>A rs572958276
NM_000264.4(PTCH1):c.1049G>A (p.Ser350Asn) rs779294007
NM_000264.4(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077
NM_000264.4(PTCH1):c.1216-6C>A rs186008764
NM_000264.4(PTCH1):c.1348-4G>A rs772826555
NM_000264.4(PTCH1):c.1476A>G (p.Gly492=) rs1057515720
NM_000264.4(PTCH1):c.1480T>G (p.Ser494Ala) rs1057515719
NM_000264.4(PTCH1):c.1503+12G>A rs368083214
NM_000264.4(PTCH1):c.1653G>A (p.Thr551=) rs766039170
NM_000264.4(PTCH1):c.1710G>T (p.Leu570=) rs374924167
NM_000264.4(PTCH1):c.1808G>A (p.Arg603His) rs199523893
NM_000264.4(PTCH1):c.1847+14C>T rs202007968
NM_000264.4(PTCH1):c.2184G>A (p.Thr728=) rs201103723
NM_000264.4(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117
NM_000264.4(PTCH1):c.2304C>T (p.Thr768=) rs1805156
NM_000264.4(PTCH1):c.2460C>T (p.Tyr820=) rs766227557
NM_000264.4(PTCH1):c.2484C>T (p.Asn828=) rs143305989
NM_000264.4(PTCH1):c.2560+11G>A rs774494594
NM_000264.4(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455
NM_000264.4(PTCH1):c.2787C>T (p.Asn929=) rs145196322
NM_000264.4(PTCH1):c.2887+10G>A rs202081420
NM_000264.4(PTCH1):c.3423G>A (p.Ala1141=) rs745948150
NM_000264.4(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.4(PTCH1):c.37C>G (p.Arg13Gly) rs779791579
NM_000264.4(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275
NM_000264.4(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.4(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417
NM_000264.4(PTCH1):c.4152G>A (p.Pro1384=) rs761887390
NM_000264.4(PTCH1):c.46G>A (p.Gly16Ser) rs1057515721
NM_001265612.1(CNOT1):c.1603C>T (p.Arg535Cys)
NM_003244.3(TGIF1):c.123C>T (p.Asn41=) rs138292737
NM_003923.2(FOXH1):c.*172C>G rs148389554
NM_003923.2(FOXH1):c.*237_*239delGAG rs550365735
NM_003923.2(FOXH1):c.*23C>T rs541830947
NM_003923.2(FOXH1):c.*451C>T rs886062751
NM_003923.2(FOXH1):c.*74G>A rs562738425
NM_003923.2(FOXH1):c.-136delC rs569877410
NM_003923.2(FOXH1):c.-206C>T rs886062756
NM_003923.2(FOXH1):c.-280G>A rs886062757
NM_003923.2(FOXH1):c.-446T>C rs886062758
NM_003923.2(FOXH1):c.-506G>A rs886062759
NM_003923.2(FOXH1):c.1024G>A (p.Asp342Asn) rs536501327
NM_003923.2(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321
NM_003923.2(FOXH1):c.260C>G (p.Ser87Cys) rs886062755
NM_003923.2(FOXH1):c.266G>A (p.Arg89Gln) rs755573914
NM_003923.2(FOXH1):c.334G>A (p.Val112Met)
NM_003923.2(FOXH1):c.386G>A (p.Arg129Gln)
NM_003923.2(FOXH1):c.389G>A (p.Arg130His) rs886062754
NM_003923.2(FOXH1):c.442G>A (p.Val148Met) rs886062753
NM_003923.2(FOXH1):c.577C>A (p.Pro193Thr) rs778695747
NM_003923.2(FOXH1):c.58C>T (p.Pro20Ser) rs778783647
NM_003923.2(FOXH1):c.653C>T (p.Pro218Leu) rs770944195
NM_003923.2(FOXH1):c.700C>T (p.Gln234Ter)
NM_003923.2(FOXH1):c.746C>T (p.Ala249Val)
NM_003923.2(FOXH1):c.785G>T (p.Gly262Val) rs886062752
NM_003923.2(FOXH1):c.794C>A (p.Ser265Tyr) rs769660425
NM_003923.2(FOXH1):c.933G>C (p.Trp311Cys) rs140090667
NM_003923.2(FOXH1):c.974G>A (p.Cys325Tyr)
NM_005270.4(GLI2):c.*1029C>T rs182760827
NM_005270.4(GLI2):c.*1330_*1331insCTACAC rs886054822
NM_005270.4(GLI2):c.*1331_*1332insCACACA rs1349034466
NM_005270.4(GLI2):c.*1332T>C rs150397467
NM_005270.4(GLI2):c.*1369_*1376dupACACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376delACACAC rs59277032
NM_005270.4(GLI2):c.*1371_*1376dupACACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376delACAC rs59277032
NM_005270.4(GLI2):c.*1373_*1376dupACAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376delAC rs59277032
NM_005270.4(GLI2):c.*1375_*1376dupAC rs59277032
NM_005270.4(GLI2):c.*1376_*1377insACACCCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1377insACCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1377insACCCCC rs1553480327
NM_005270.4(GLI2):c.*1376_*1379dupCCCC rs1553480328
NM_005270.4(GLI2):c.*1628G>T rs886054827
NM_005270.4(GLI2):c.*1819T>C rs754885960
NM_005270.4(GLI2):c.*1837_*1840dupATCT rs558203417
NM_005270.4(GLI2):c.*1888T>G rs747928542
NM_005270.4(GLI2):c.*1895G>A rs76865566
NM_005270.4(GLI2):c.*31G>A rs377195281
NM_005270.4(GLI2):c.*378A>G rs886054820
NM_005270.4(GLI2):c.*81_*82delTT rs886054819
NM_005270.4(GLI2):c.*963A>T rs191669588
NM_005270.4(GLI2):c.1173G>A (p.Ala391=) rs144819008
NM_005270.4(GLI2):c.1368+6C>G rs200971419
NM_005270.4(GLI2):c.148+15G>A rs182618064
NM_005270.4(GLI2):c.148+5T>C rs201273354
NM_005270.4(GLI2):c.1684-7T>A rs532360271
NM_005270.4(GLI2):c.1806C>T (p.Asp602=) rs139202322
NM_005270.4(GLI2):c.1941G>A (p.Lys647=) rs565184396
NM_005270.4(GLI2):c.1968C>T (p.Ser656=) rs377642084
NM_005270.4(GLI2):c.2113G>A (p.Asp705Asn) rs751513015
NM_005270.4(GLI2):c.220C>T (p.His74Tyr) rs201945889
NM_005270.4(GLI2):c.2250T>G (p.Thr750=) rs146909860
NM_005270.4(GLI2):c.2318G>A (p.Gly773Asp) rs886054812
NM_005270.4(GLI2):c.2446G>T (p.Ala816Ser) rs767780220
NM_005270.4(GLI2):c.244G>A (p.Gly82Ser) rs531807595
NM_005270.4(GLI2):c.252C>T (p.His84=) rs201412339
NM_005270.4(GLI2):c.2649G>A (p.Pro883=) rs772224406
NM_005270.4(GLI2):c.2708C>G (p.Thr903Ser) rs572826436
NM_005270.4(GLI2):c.2741G>A (p.Arg914Gln) rs886054813
NM_005270.4(GLI2):c.3006C>G (p.Ala1002=) rs886054814
NM_005270.4(GLI2):c.31G>A (p.Glu11Lys) rs574656730
NM_005270.4(GLI2):c.3237C>T (p.Asp1079=) rs769533860
NM_005270.4(GLI2):c.3279C>T (p.Phe1093=) rs886054815
NM_005270.4(GLI2):c.3460G>A (p.Val1154Ile) rs200999705
NM_005270.4(GLI2):c.3467C>T (p.Ala1156Val) rs886054816
NM_005270.4(GLI2):c.3469C>T (p.Leu1157=) rs141988240
NM_005270.4(GLI2):c.3647T>A (p.Ile1216Asn) rs886054817
NM_005270.4(GLI2):c.3698A>G (p.Gln1233Arg) rs377503122
NM_005270.4(GLI2):c.3937C>A (p.Pro1313Thr) rs767845340
NM_005270.4(GLI2):c.4030C>T (p.Leu1344=) rs149290823
NM_005270.4(GLI2):c.4065A>G (p.Gln1355=) rs374113689
NM_005270.4(GLI2):c.4221G>A (p.Pro1407=) rs200149538
NM_005270.4(GLI2):c.4259C>G (p.Ala1420Gly) rs370136073
NM_005270.4(GLI2):c.4306G>A (p.Ala1436Thr) rs376388820
NM_005270.4(GLI2):c.4344C>T (p.Tyr1448=) rs374166743
NM_005270.4(GLI2):c.4358T>C (p.Met1453Thr) rs886054818
NM_005270.4(GLI2):c.4497T>C (p.Thr1499=) rs151090814
NM_005270.4(GLI2):c.595G>A (p.Gly199Ser) rs542892514
NM_005270.4(GLI2):c.845+10G>A rs199673018
NM_005618.3(DLL1):c.1802_1804delACA (p.Asp601_Ile602delinsVal) rs573197356
NM_016952.4(CDON):c.*1151C>T rs780047854
NM_016952.4(CDON):c.*1211A>G rs886047973
NM_016952.4(CDON):c.*1216G>A rs757413144
NM_016952.4(CDON):c.*1310dupT rs886047972
NM_016952.4(CDON):c.*1327T>G rs886047971
NM_016952.4(CDON):c.*1429C>T rs886047970
NM_016952.4(CDON):c.*1506dupA rs886047969
NM_016952.4(CDON):c.*1508A>G rs886047968
NM_016952.4(CDON):c.*1517G>T rs886047967
NM_016952.4(CDON):c.*1572A>G rs367911589
NM_016952.4(CDON):c.*1589G>A rs867218141
NM_016952.4(CDON):c.*1661C>T rs192397582
NM_016952.4(CDON):c.*1736C>T rs886047966
NM_016952.4(CDON):c.*1745A>G rs886047965
NM_016952.4(CDON):c.*1800A>G rs886047964
NM_016952.4(CDON):c.*1803C>T rs886047963
NM_016952.4(CDON):c.*1816C>T rs776338493
NM_016952.4(CDON):c.*2101A>G rs886047962
NM_016952.4(CDON):c.*215C>T rs879027869
NM_016952.4(CDON):c.*2195G>A rs886047961
NM_016952.4(CDON):c.*2264C>T rs185017679
NM_016952.4(CDON):c.*2283_*2285delCTT rs879891676
NM_016952.4(CDON):c.*2345_*2349delTATAAinsAACACACACAC rs886047960
NM_016952.4(CDON):c.*2345_*2349delTATAAinsAACACACACACAC rs886047960
NM_016952.4(CDON):c.*2369_*2376dupCACACACA rs35654681
NM_016952.4(CDON):c.*2371_*2376dupCACACA rs35654681
NM_016952.4(CDON):c.*2373C>T rs371492744
NM_016952.4(CDON):c.*2373_*2378delCACATA rs886047957
NM_016952.4(CDON):c.*2375_*2376delCA rs35654681
NM_016952.4(CDON):c.*2375_*2376dupCA rs35654681
NM_016952.4(CDON):c.*2376_*2377insCACACACACACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACACATATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCACATATATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCATA rs371911236
NM_016952.4(CDON):c.*2376_*2377insCATATA rs371911236
NM_016952.4(CDON):c.*2377T>C rs582224
NM_016952.4(CDON):c.*2377_*2379delTATinsCACACACACAC rs886047956
NM_016952.4(CDON):c.*2377_*2379delTATinsCACACACACACACAC rs886047956
NM_016952.4(CDON):c.*2377delTinsCACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2377delTinsCACACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2378_*2379insCA rs886047955
NM_016952.4(CDON):c.*2378_*2379insCACACA rs886047955
NM_016952.4(CDON):c.*2378_*2379insCACACACACACA rs886047955
NM_016952.4(CDON):c.*2380_*2381insCA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACACA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACACACACA rs886047954
NM_016952.4(CDON):c.*2389_*2394dupTATATA rs140500280
NM_016952.4(CDON):c.*2393_*2394dupTA rs140500280
NM_016952.4(CDON):c.*249G>A rs886047975
NM_016952.4(CDON):c.*2580G>C rs886047952
NM_016952.4(CDON):c.*2640A>G rs886047951
NM_016952.4(CDON):c.*2698T>C rs886047950
NM_016952.4(CDON):c.*2705C>T rs549903425
NM_016952.4(CDON):c.*2769G>A rs886047949
NM_016952.4(CDON):c.*3104T>C rs886047948
NM_016952.4(CDON):c.*3133A>T rs886047947
NM_016952.4(CDON):c.*3210A>G rs886047946
NM_016952.4(CDON):c.*3481C>T rs886047945
NM_016952.4(CDON):c.*3522_*3523delCT rs886047944
NM_016952.4(CDON):c.*3610C>T rs886047943
NM_016952.4(CDON):c.*369G>A rs147808410
NM_016952.4(CDON):c.*3916G>A rs886047942
NM_016952.4(CDON):c.*4097A>G rs886047941
NM_016952.4(CDON):c.*601T>A rs549303080
NM_016952.4(CDON):c.*609dupA rs111312273
NM_016952.4(CDON):c.*696T>C rs566390376
NM_016952.4(CDON):c.*863C>T rs886047974
NM_016952.4(CDON):c.*864G>A rs144806373
NM_016952.4(CDON):c.*871C>T rs148777681
NM_016952.4(CDON):c.-48G>A rs374433009
NM_016952.4(CDON):c.-61-15delC rs886047980
NM_016952.4(CDON):c.-61-9_-61-7delCTT rs557544550
NM_016952.4(CDON):c.1000G>C (p.Asp334His) rs571859031
NM_016952.4(CDON):c.1253A>T (p.Asp418Val) rs753627841
NM_016952.4(CDON):c.1414C>G (p.Pro472Ala) rs750020763
NM_016952.4(CDON):c.1553-11_1553-8delTCTC rs762936563
NM_016952.4(CDON):c.1654A>G (p.Ser552Gly) rs886047977
NM_016952.4(CDON):c.1665G>A (p.Pro555=) rs537471531
NM_016952.4(CDON):c.1741A>G (p.Ile581Val) rs141782811
NM_016952.4(CDON):c.1826A>G (p.Asn609Ser) rs756054017
NM_016952.4(CDON):c.1847G>A (p.Arg616Gln) rs144938780
NM_016952.4(CDON):c.1855G>C (p.Asp619His) rs141081456
NM_016952.4(CDON):c.1889C>T (p.Thr630Met) rs559379897
NM_016952.4(CDON):c.1940C>T (p.Pro647Leu) rs200961603
NM_016952.4(CDON):c.1977C>T (p.Ser659=) rs563267429
NM_016952.4(CDON):c.2026+15C>T rs143813933
NM_016952.4(CDON):c.2159-14G>A rs752818698
NM_016952.4(CDON):c.2159-8G>A rs759480175
NM_016952.4(CDON):c.2239G>A (p.Gly747Arg) rs745363657
NM_016952.4(CDON):c.2429C>G (p.Ser810Cys) rs746038393
NM_016952.4(CDON):c.2462G>A (p.Arg821His) rs146660717
NM_016952.4(CDON):c.3040G>A (p.Gly1014Arg) rs371732066
NM_016952.4(CDON):c.3061A>G (p.Thr1021Ala) rs762511903
NM_016952.4(CDON):c.3190A>G (p.Ser1064Gly) rs143111106
NM_016952.4(CDON):c.3297C>T (p.Ala1099=) rs770868175
NM_016952.4(CDON):c.3312C>T (p.Asp1104=) rs886047976
NM_016952.4(CDON):c.350-9A>G rs367564964
NM_016952.4(CDON):c.3603C>A (p.Gly1201=) rs763774382
NM_016952.4(CDON):c.39T>C (p.Tyr13=) rs886047979
NM_016952.4(CDON):c.94A>G (p.Thr32Ala) rs886047978
NM_018055.4(NODAL):c.*121C>A rs578069296
NM_018055.4(NODAL):c.*480G>A rs886047101
NM_018055.4(NODAL):c.*676C>T rs886047100
NM_018055.4(NODAL):c.*677C>T rs184218697
NM_018055.4(NODAL):c.*678G>A rs374692279
NM_018055.4(NODAL):c.*747dupA rs886047099
NM_018055.4(NODAL):c.*836G>C rs886047098
NM_018055.4(NODAL):c.*887C>T rs553447349
NM_018055.4(NODAL):c.-9C>T rs756480830
NM_018055.4(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.4(NODAL):c.203T>C (p.Val68Ala) rs886047105
NM_018055.4(NODAL):c.221C>T (p.Thr74Met) rs886047104
NM_018055.4(NODAL):c.280C>T (p.Arg94Trp) rs778607015
NM_018055.4(NODAL):c.281G>A (p.Arg94Gln) rs146018217
NM_018055.4(NODAL):c.393G>C (p.Arg131=) rs765235855
NM_018055.4(NODAL):c.417C>T (p.Val139=) rs764201898
NM_018055.4(NODAL):c.514C>G (p.Gln172Glu) rs886047102
NM_018055.4(NODAL):c.550C>T (p.Pro184Ser) rs752979542
NM_018055.4(NODAL):c.593C>A (p.Ser198Tyr) rs377663429
NM_018055.4(NODAL):c.963G>A (p.Leu321=) rs772060498
NM_032890.4(DISP1):c.743C>T (p.Ala248Val) rs1029577112
NM_033164.3(FGF8):c.464A>G (p.Asn155Ser) rs778082287
NM_033164.3(FGF8):c.86_103dup (p.Arg34_Glu35insGlyProAlaLeuGlyArg) rs762175290
NM_033254.3(BOC):c.1667G>A (p.Gly556Glu) rs1553745274
NM_173208.2(TGIF1):c.*133A>G rs886053783
NM_173208.2(TGIF1):c.*19A>G rs145621092
NM_173208.2(TGIF1):c.*336T>C rs886053785
NM_173208.2(TGIF1):c.573G>T (p.Ser191=) rs142737563

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