ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly sequence

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ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal) rs573197356 0.00301
NM_018055.5(NODAL):c.*328G>A rs543607155 0.00286
NM_003244.4(TGIF1):c.123C>T (p.Asn41=) rs138292737 0.00135
NM_018055.5(NODAL):c.*678G>A rs374692279 0.00130
NM_001378964.1(CDON):c.*609dup rs111312273 0.00116
NM_001369769.2(KIFC2):c.*775C>T rs562738425 0.00075
NM_018055.5(NODAL):c.555C>A (p.Pro185=) rs368748141 0.00061
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715 0.00056
NM_003923.2(FOXH1):c.-543C>T rs757929550 0.00046
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321 0.00045
NM_003923.2(FOXH1):c.-527C>T rs574309684 0.00035
NM_018055.5(NODAL):c.*121C>A rs578069296 0.00034
NM_018055.5(NODAL):c.*887C>T rs553447349 0.00029
NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr) rs752459708 0.00014
NM_018055.5(NODAL):c.*820G>C rs941592035 0.00014
NM_018055.5(NODAL):c.*836G>C rs886047098 0.00013
NM_001369769.2(KIFC2):c.*761T>C rs1024459830 0.00011
NM_001378964.1(CDON):c.*3522_*3523del rs886047944 0.00011
NM_001393530.1(MATN4):c.1688-7C>A rs200891394 0.00011
NM_003923.3(FOXH1):c.416C>A (p.Ala139Asp) rs373424413 0.00011
NM_018055.5(NODAL):c.*360A>G rs576189812 0.00011
NM_003923.3(FOXH1):c.1056G>A (p.Ala352=) rs142762918 0.00009
NM_003923.2(FOXH1):c.-506G>A rs886062759 0.00007
NM_003923.3(FOXH1):c.548C>T (p.Pro183Leu) rs200095132 0.00007
NM_018055.5(NODAL):c.*480G>A rs886047101 0.00007
NM_001369769.2(KIFC2):c.*677G>C rs148389554 0.00006
NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln) rs149905713 0.00006
NM_003923.3(FOXH1):c.685G>A (p.Glu229Lys) rs749154097 0.00006
NM_018055.5(NODAL):c.221C>T (p.Thr74Met) rs886047104 0.00006
NM_003923.3(FOXH1):c.40G>A (p.Ala14Thr) rs1007629465 0.00005
NM_003923.3(FOXH1):c.560C>T (p.Pro187Leu) rs371197993 0.00005
NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly) rs761837057 0.00004
NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala) rs759179996 0.00004
NM_003923.3(FOXH1):c.812C>T (p.Ala271Val) rs372121961 0.00004
NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys) rs774860387 0.00003
NM_003923.3(FOXH1):c.653C>T (p.Pro218Leu) rs770944195 0.00003
NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys) rs140090667 0.00003
NM_003923.3(FOXH1):c.958C>T (p.Pro320Ser) rs761520666 0.00003
NM_018055.5(NODAL):c.-9C>T rs756480830 0.00003
NM_003923.3(FOXH1):c.122T>C (p.Met41Thr) rs369306218 0.00002
NM_003923.3(FOXH1):c.376G>A (p.Ala126Thr) rs377691075 0.00002
NM_018055.5(NODAL):c.*729A>G rs753318696 0.00002
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_001369769.2(KIFC2):c.*398G>A rs886062751 0.00001
NM_001369769.2(KIFC2):c.*413C>T rs1825046297 0.00001
NM_001369769.2(KIFC2):c.*467G>A rs961808166 0.00001
NM_001377229.1(DISP1):c.743C>T (p.Ala248Val) rs1029577112 0.00001
NM_003923.2(FOXH1):c.-206C>T rs886062756 0.00001
NM_003923.2(FOXH1):c.-337G>A rs1825143123 0.00001
NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu) rs1421316442 0.00001
NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn) rs536501327 0.00001
NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser) rs777086342 0.00001
NM_003923.3(FOXH1):c.442G>A (p.Val148Met) rs886062753 0.00001
NM_003923.3(FOXH1):c.44A>T (p.Glu15Val) rs781140141 0.00001
NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu) rs1270394786 0.00001
NM_003923.3(FOXH1):c.577C>A (p.Pro193Thr) rs778695747 0.00001
NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser) rs778783647 0.00001
NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe) rs768693604 0.00001
NM_003923.3(FOXH1):c.81G>A (p.Arg27=) rs1272355873 0.00001
NM_003923.3(FOXH1):c.889C>T (p.Pro297Ser) rs1341732331 0.00001
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr) rs770253235 0.00001
NM_018055.5(NODAL):c.*676C>T rs886047100 0.00001
NM_018055.5(NODAL):c.203T>C (p.Val68Ala) rs886047105 0.00001
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) rs778607015 0.00001
NM_018055.5(NODAL):c.393G>C (p.Arg131=) rs765235855 0.00001
NM_018055.5(NODAL):c.512A>T (p.Lys171Met) rs573873795 0.00001
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) rs886047102 0.00001
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) rs752979542 0.00001
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) rs377663429 0.00001
NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) rs1470460821 0.00001
NC_000008.10:g.(?_143822561)_(145743168_?)dup
NC_000008.11:g.(?_144474218)_(144475776_?)dup
NC_000008.11:g.(?_144475137)_(144475776_?)dup
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_000264.5(PTCH1):c.*1866TG[12] rs59205702
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_001369769.2(KIFC2):c.*419C>T rs1825046517
NM_001369769.2(KIFC2):c.*426C>T rs1362803083
NM_001369769.2(KIFC2):c.*495G>A rs1825050087
NM_001369769.2(KIFC2):c.*527G>T rs1440626432
NM_001369769.2(KIFC2):c.*612_*614del rs550365735
NM_001374353.1(GLI2):c.*1330CA[4] rs1349034466
NM_001374353.1(GLI2):c.*1330_*1331insCTACAC rs886054822
NM_001374353.1(GLI2):c.*1333AC[19] rs59277032
NM_001374353.1(GLI2):c.*1333AC[20] rs59277032
NM_001374353.1(GLI2):c.*1333AC[21] rs59277032
NM_001374353.1(GLI2):c.*1333AC[23] rs59277032
NM_001374353.1(GLI2):c.*1333AC[24] rs59277032
NM_001374353.1(GLI2):c.*1333AC[25] rs59277032
NM_001374353.1(GLI2):c.*1333AC[26] rs59277032
NM_001374353.1(GLI2):c.*1376_*1377insACACCCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1377insACCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1377insACCCCC rs1553480327
NM_001374353.1(GLI2):c.*1376_*1379dup rs1553480328
NM_001374353.1(GLI2):c.*1837_*1840dup rs558203417
NM_001374353.1(GLI2):c.*81_*82del rs886054819
NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu) rs1553745274
NM_001378964.1(CDON):c.*1310dup rs886047972
NM_001378964.1(CDON):c.*1506dup rs886047969
NM_001378964.1(CDON):c.*1508A>G rs886047968
NM_001378964.1(CDON):c.*2283_*2285del rs879891676
NM_001378964.1(CDON):c.*2345_*2349delinsAACACACACAC rs886047960
NM_001378964.1(CDON):c.*2345_*2349delinsAACACACACACAC rs886047960
NM_001378964.1(CDON):c.*2351CA[12] rs35654681
NM_001378964.1(CDON):c.*2351CA[14] rs35654681
NM_001378964.1(CDON):c.*2351CA[16] rs35654681
NM_001378964.1(CDON):c.*2351CA[17] rs35654681
NM_001378964.1(CDON):c.*2373_*2378del rs886047957
NM_001378964.1(CDON):c.*2376AC[2]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[2]AT[3]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[3]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[3]AT[3]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[4]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[4]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[5]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[5]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[6]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[8]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376_*2377insCATA rs371911236
NM_001378964.1(CDON):c.*2376_*2377insCATATA rs371911236
NM_001378964.1(CDON):c.*2377TA[10] rs140500280
NM_001378964.1(CDON):c.*2377TA[12] rs140500280
NM_001378964.1(CDON):c.*2377_*2379delinsCACACACACAC rs886047956
NM_001378964.1(CDON):c.*2377_*2379delinsCACACACACACACAC rs886047956
NM_001378964.1(CDON):c.*2377delinsCACACACACACACAC rs886047958
NM_001378964.1(CDON):c.*2377delinsCACACACACACACACAC rs886047958
NM_001378964.1(CDON):c.*2378_*2379insCA rs886047955
NM_001378964.1(CDON):c.*2379CA[3] rs886047955
NM_001378964.1(CDON):c.*2379CA[6] rs886047955
NM_001378964.1(CDON):c.*2380_*2381insCA rs886047954
NM_001378964.1(CDON):c.*2380_*2381insCACA rs886047954
NM_001378964.1(CDON):c.*2381CA[3] rs886047954
NM_001378964.1(CDON):c.*2381CA[5] rs886047954
NM_001378964.1(CDON):c.-61-15del rs886047980
NM_001378964.1(CDON):c.-61-9_-61-7del rs557544550
NM_001378964.1(CDON):c.1553-17TC[3] rs762936563
NM_001378964.1(CDON):c.2429C>G (p.Ser810Cys) rs746038393
NM_003244.4(TGIF1):c.*133A>G rs886053783
NM_003244.4(TGIF1):c.*336T>C rs886053785
NM_003923.2(FOXH1):c.-140delC rs569877410
NM_003923.2(FOXH1):c.-275G>T rs1586729061
NM_003923.2(FOXH1):c.-280G>A rs886062757
NM_003923.2(FOXH1):c.-307G>C rs145418332
NM_003923.2(FOXH1):c.-446T>C rs886062758
NM_003923.3(FOXH1):c.*21C>A rs1825066619
NM_003923.3(FOXH1):c.-53G>A rs1232940437
NM_003923.3(FOXH1):c.100C>T (p.Pro34Ser)
NM_003923.3(FOXH1):c.1057G>A (p.Ala353Thr)
NM_003923.3(FOXH1):c.1060C>T (p.Pro354Ser)
NM_003923.3(FOXH1):c.128C>T (p.Ala43Val) rs1825126970
NM_003923.3(FOXH1):c.147_149del (p.Pro50del) rs2130041524
NM_003923.3(FOXH1):c.167T>G (p.Leu56Arg)
NM_003923.3(FOXH1):c.182G>A (p.Arg61His) rs138436343
NM_003923.3(FOXH1):c.182G>T (p.Arg61Leu)
NM_003923.3(FOXH1):c.214_217del (p.Glu72fs)
NM_003923.3(FOXH1):c.244C>A (p.Arg82Ser)
NM_003923.3(FOXH1):c.254_265del (p.Leu85_Asn88del) rs2130039684
NM_003923.3(FOXH1):c.260C>G (p.Ser87Cys) rs886062755
NM_003923.3(FOXH1):c.296C>A (p.Ala99Glu)
NM_003923.3(FOXH1):c.2T>A (p.Met1Lys)
NM_003923.3(FOXH1):c.385C>T (p.Arg129Trp)
NM_003923.3(FOXH1):c.389G>A (p.Arg130His) rs886062754
NM_003923.3(FOXH1):c.403G>A (p.Gly135Ser)
NM_003923.3(FOXH1):c.424A>G (p.Lys142Glu) rs1488443353
NM_003923.3(FOXH1):c.470C>G (p.Pro157Arg)
NM_003923.3(FOXH1):c.507C>G (p.Ile169Met) rs780001651
NM_003923.3(FOXH1):c.527C>A (p.Ser176Tyr)
NM_003923.3(FOXH1):c.557C>T (p.Ala186Val) rs763280219
NM_003923.3(FOXH1):c.567C>A (p.Ser189Arg)
NM_003923.3(FOXH1):c.599G>A (p.Gly200Glu)
NM_003923.3(FOXH1):c.619C>T (p.Pro207Ser)
NM_003923.3(FOXH1):c.680G>A (p.Arg227Lys)
NM_003923.3(FOXH1):c.694A>G (p.Thr232Ala)
NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter) rs1564751909
NM_003923.3(FOXH1):c.704G>A (p.Gly235Glu)
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) rs1564751833
NM_003923.3(FOXH1):c.776C>T (p.Ala259Val) rs1825079949
NM_003923.3(FOXH1):c.77A>G (p.Lys26Arg)
NM_003923.3(FOXH1):c.785G>T (p.Gly262Val) rs886062752
NM_003923.3(FOXH1):c.791G>C (p.Arg264Pro) rs775241333
NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr) rs769660425
NM_003923.3(FOXH1):c.856A>C (p.Thr286Pro)
NM_003923.3(FOXH1):c.868G>A (p.Val290Ile)
NM_003923.3(FOXH1):c.878T>G (p.Leu293Trp) rs2130035536
NM_003923.3(FOXH1):c.923C>T (p.Pro308Leu)
NM_003923.3(FOXH1):c.965G>A (p.Gly322Glu)
NM_003923.3(FOXH1):c.965G>T (p.Gly322Val) rs199639592
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_018055.5(NODAL):c.*125A>C rs1845284740
NM_018055.5(NODAL):c.*329A>C rs1845280905
NM_018055.5(NODAL):c.*747dup rs886047099
NM_018055.5(NODAL):c.*829T>G rs1845269935
NM_018055.5(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) rs1845341646
NM_018055.5(NODAL):c.702G>A (p.Arg234=) rs755206267
NM_018055.5(NODAL):c.819C>G (p.Ala273=) rs749265748
NM_033163.5(FGF8):c.497A>G (p.Asn166Ser) rs778082287
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290

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