ClinVar Miner

List of variants studied for Holoprosencephaly sequence

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Minimum conflict level:
ClinVar version:
Total variants: 238
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HGVS dbSNP
NC_000008.11:g.(?_144474218)_(144475776_?)dup
NC_000008.11:g.(?_144475137)_(144475776_?)dup
NC_000008.11:g.144476031C>A
NC_000008.11:g.144476063C>G
NC_000008.11:g.144476063C>T
NC_000008.11:g.144476093C>T
NC_000008.11:g.144476283G>A
NC_000008.11:g.144476299G>A
NM_000193.4(SHH):c.468C>A (p.Ser156Arg) rs1554494372
NM_000264.5(PTCH1):c.*1866_*1867TG[10] rs59205702
NM_000264.5(PTCH1):c.*1866_*1867TG[12] rs59205702
NM_000264.5(PTCH1):c.*1893_*1894GT[4] rs531572088
NM_000264.5(PTCH1):c.*2288dup rs548096592
NM_000264.5(PTCH1):c.*2988_*2991TTGT[1] rs139748418
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.*748_*749insACTT rs147342582
NM_000264.5(PTCH1):c.*748_*749insATTT rs1554687587
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_001243597.1(CDON):c.*1311_*1314GTTT[2] rs567351832
NM_001243597.1(CDON):c.*2351_*2352CA[12] rs35654681
NM_001243597.1(CDON):c.*2351_*2352CA[14] rs35654681
NM_001243597.1(CDON):c.*2351_*2352CA[16] rs35654681
NM_001243597.1(CDON):c.*2351_*2352CA[17] rs35654681
NM_001243597.1(CDON):c.*2377_*2378TA[10] rs140500280
NM_001243597.1(CDON):c.*2377_*2378TA[12] rs140500280
NM_001243597.1(CDON):c.*2379_*2380CA[3] rs886047955
NM_001243597.1(CDON):c.*2379_*2380CA[6] rs886047955
NM_001243597.1(CDON):c.*2381_*2382CA[3] rs886047954
NM_001243597.1(CDON):c.*2381_*2382CA[5] rs886047954
NM_001374353.1(GLI2):c.*1147_*1148del rs199943079
NM_001374353.1(GLI2):c.*1330_*1331insCTACAC rs886054822
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_003244.3(TGIF1):c.*274del rs34622075
NM_003244.3(TGIF1):c.*441del rs397858239
NM_003244.3(TGIF1):c.-33C>A rs238132
NM_003244.3(TGIF1):c.123C>T (p.Asn41=) rs138292737
NM_003244.3(TGIF1):c.420A>G (p.Pro140=) rs2229337
NM_003244.3(TGIF1):c.487C>T (p.Pro163Ser) rs4468717
NM_003244.3(TGIF1):c.488C>T (p.Pro163Leu) rs2229333
NM_003244.3(TGIF1):c.576C>T (p.Val192=) rs2229335
NM_003244.3(TGIF1):c.657T>G (p.Thr219=) rs2229336
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.-314T>G rs750472
NM_003923.2(FOXH1):c.-333T>C rs147276162
NM_003923.2(FOXH1):c.-446T>C rs886062758
NM_003923.2(FOXH1):c.-506G>A rs886062759
NM_003923.3(FOXH1):c.*172C>G rs148389554
NM_003923.3(FOXH1):c.*20A>G rs2721176
NM_003923.3(FOXH1):c.*21C>A
NM_003923.3(FOXH1):c.*233G>A
NM_003923.3(FOXH1):c.*237_*239del rs550365735
NM_003923.3(FOXH1):c.*23C>T rs541830947
NM_003923.3(FOXH1):c.*311C>T rs74360910
NM_003923.3(FOXH1):c.*322C>A
NM_003923.3(FOXH1):c.*354C>T
NM_003923.3(FOXH1):c.*382C>T
NM_003923.3(FOXH1):c.*423G>A
NM_003923.3(FOXH1):c.*430G>A
NM_003923.3(FOXH1):c.*436G>A
NM_003923.3(FOXH1):c.*451C>T rs886062751
NM_003923.3(FOXH1):c.*472G>T rs576710211
NM_003923.3(FOXH1):c.*55C>T rs192907579
NM_003923.3(FOXH1):c.*74G>A rs562738425
NM_003923.3(FOXH1):c.*88A>G
NM_003923.3(FOXH1):c.-27C>A
NM_003923.3(FOXH1):c.-53G>A
NM_003923.3(FOXH1):c.-54C>T rs187197849
NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu) rs1421316442
NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=) rs149382395
NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn) rs536501327
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321
NM_003923.3(FOXH1):c.1056G>A (p.Ala352=)
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404
NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys)
NM_003923.3(FOXH1):c.15C>T (p.Ser5=) rs374587860
NM_003923.3(FOXH1):c.163A>C (p.Lys55Gln) rs759694605
NM_003923.3(FOXH1):c.182G>A (p.Arg61His)
NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly)
NM_003923.3(FOXH1):c.260C>G (p.Ser87Cys) rs886062755
NM_003923.3(FOXH1):c.282G>A (p.Val94=) rs1475464539
NM_003923.3(FOXH1):c.334G>A (p.Val112Met) rs146750489
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) rs371301968
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) rs80356380
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242
NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln) rs149905713
NM_003923.3(FOXH1):c.389G>A (p.Arg130His) rs886062754
NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser)
NM_003923.3(FOXH1):c.442G>A (p.Val148Met) rs886062753
NM_003923.3(FOXH1):c.44A>T (p.Glu15Val)
NM_003923.3(FOXH1):c.450C>T (p.His150=) rs2721177
NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr)
NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala)
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802
NM_003923.3(FOXH1):c.487C>T (p.Pro163Ser) rs200115495
NM_003923.3(FOXH1):c.54C>G (p.Ser18=) rs748058531
NM_003923.3(FOXH1):c.557C>T (p.Ala186Val)
NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu)
NM_003923.3(FOXH1):c.577C>A (p.Pro193Thr) rs778695747
NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser) rs778783647
NM_003923.3(FOXH1):c.653C>T (p.Pro218Leu) rs770944195
NM_003923.3(FOXH1):c.69G>A (p.Arg23=) rs895247507
NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter) rs1564751909
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) rs1564751833
NM_003923.3(FOXH1):c.771C>A (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.776C>T (p.Ala259Val)
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114
NM_003923.3(FOXH1):c.785G>T (p.Gly262Val) rs886062752
NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr) rs769660425
NM_003923.3(FOXH1):c.812C>T (p.Ala271Val)
NM_003923.3(FOXH1):c.81G>A (p.Arg27=)
NM_003923.3(FOXH1):c.912G>A (p.Pro304=) rs141411287
NM_003923.3(FOXH1):c.912G>T (p.Pro304=) rs141411287
NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys) rs140090667
NM_003923.3(FOXH1):c.965G>T (p.Gly322Val)
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr) rs770253235
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060
NM_005270.4(GLI2):c.*1331_*1332insCACACA rs1349034466
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_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal) rs573197356
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_016952.4(CDON):c.*1310dup rs886047972
NM_016952.4(CDON):c.*1506dup rs886047969
NM_016952.4(CDON):c.*1508A>G rs886047968
NM_016952.4(CDON):c.*2283_*2285del rs879891676
NM_016952.4(CDON):c.*2345_*2349delinsAACACACACAC rs886047960
NM_016952.4(CDON):c.*2345_*2349delinsAACACACACACAC rs886047960
NM_016952.4(CDON):c.*2373_*2378del rs886047957
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.*2377_*2379delinsCACACACACAC rs886047956
NM_016952.4(CDON):c.*2377_*2379delinsCACACACACACACAC rs886047956
NM_016952.4(CDON):c.*2377delinsCACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2377delinsCACACACACACACACAC rs886047958
NM_016952.4(CDON):c.*2378_*2379insCA rs886047955
NM_016952.4(CDON):c.*2380_*2381insCA rs886047954
NM_016952.4(CDON):c.*2380_*2381insCACA rs886047954
NM_016952.4(CDON):c.*3522_*3523del rs886047944
NM_016952.4(CDON):c.*4135C>T rs4937076
NM_016952.4(CDON):c.*609dup rs111312273
NM_016952.4(CDON):c.-131G>A rs79446614
NM_016952.4(CDON):c.-61-15del rs886047980
NM_016952.4(CDON):c.-61-9_-61-7del rs557544550
NM_016952.4(CDON):c.1553-17TC[3] rs762936563
NM_016952.4(CDON):c.2429C>G (p.Ser810Cys) rs746038393
NM_018055.5(NODAL):c.*121C>A rs578069296
NM_018055.5(NODAL):c.*125A>C
NM_018055.5(NODAL):c.*328G>A
NM_018055.5(NODAL):c.*329A>C
NM_018055.5(NODAL):c.*356G>A rs556853359
NM_018055.5(NODAL):c.*360A>G
NM_018055.5(NODAL):c.*404T>C rs77232076
NM_018055.5(NODAL):c.*479C>T rs80138796
NM_018055.5(NODAL):c.*480G>A rs886047101
NM_018055.5(NODAL):c.*62A>T rs76889088
NM_018055.5(NODAL):c.*676C>T rs886047100
NM_018055.5(NODAL):c.*677C>T rs184218697
NM_018055.5(NODAL):c.*678G>A rs374692279
NM_018055.5(NODAL):c.*722G>C rs2279254
NM_018055.5(NODAL):c.*729A>G
NM_018055.5(NODAL):c.*740T>C rs2279253
NM_018055.5(NODAL):c.*747dup rs886047099
NM_018055.5(NODAL):c.*820G>C
NM_018055.5(NODAL):c.*829T>G
NM_018055.5(NODAL):c.*836G>C rs886047098
NM_018055.5(NODAL):c.*886G>A rs58468830
NM_018055.5(NODAL):c.*887C>T rs553447349
NM_018055.5(NODAL):c.-9C>T rs756480830
NM_018055.5(NODAL):c.125C>T (p.Ala42Val) rs146471900
NM_018055.5(NODAL):c.193+12C>T rs10999338
NM_018055.5(NODAL):c.203T>C (p.Val68Ala) rs886047105
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571
NM_018055.5(NODAL):c.221C>T (p.Thr74Met) rs886047104
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) rs778607015
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) rs146018217
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171
NM_018055.5(NODAL):c.393G>C (p.Arg131=) rs765235855
NM_018055.5(NODAL):c.417C>T (p.Val139=) rs764201898
NM_018055.5(NODAL):c.467C>T (p.Thr156Ile)
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589
NM_018055.5(NODAL):c.512A>T (p.Lys171Met)
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) rs886047102
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) rs752979542
NM_018055.5(NODAL):c.555C>A (p.Pro185=)
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) rs377663429
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334
NM_018055.5(NODAL):c.670G>A (p.Glu224Lys)
NM_018055.5(NODAL):c.702G>A (p.Arg234=)
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707
NM_018055.5(NODAL):c.963G>A (p.Leu321=) rs772060498
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715
NM_023110.2(FGFR1):c.2074G>A (p.Glu692Lys) rs876661335
NM_023110.2(FGFR1):c.880G>A (p.Glu294Lys) rs528376963
NM_032890.5(DISP1):c.743C>T (p.Ala248Val) rs1029577112
NM_033164.4(FGF8):c.130C>T (p.Arg44Trp) rs781205876
NM_033164.4(FGF8):c.157-33G>C rs1554834889
NM_033164.4(FGF8):c.157-34G>A rs1554834892
NM_033164.4(FGF8):c.323C>T (p.Thr108Met) rs876661329
NM_033164.4(FGF8):c.352C>T (p.Arg118Ter) rs876661330
NM_033164.4(FGF8):c.365C>T (p.Thr122Met) rs61730334
NM_033164.4(FGF8):c.411+1G>A rs1490604080
NM_033164.4(FGF8):c.436G>T (p.Val146Phe) rs139565972
NM_033164.4(FGF8):c.464A>G (p.Asn155Ser) rs778082287
NM_033164.4(FGF8):c.526_540del (p.Arg176_Gly180del) rs1554834321
NM_033164.4(FGF8):c.584G>A (p.Arg195Gln) rs876661331
NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033254.4(BOC):c.1667G>A (p.Gly556Glu) rs1553745274
NM_173208.2(TGIF1):c.*133A>G rs886053783
NM_173208.2(TGIF1):c.*336T>C rs886053785
NM_173208.2(TGIF1):c.*407C>G rs115682894

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