ClinVar Miner

List of variants studied for holoprosencephaly 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) rs80356380 0.03705
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404 0.01634
NM_003923.3(FOXH1):c.450C>T (p.His150=) rs2721177 0.01374
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114 0.00285
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802 0.00241
NM_003923.3(FOXH1):c.15C>T (p.Ser5=) rs374587860 0.00086
NM_003923.3(FOXH1):c.32C>A (p.Pro11His) rs200335846 0.00051
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321 0.00045
NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=) rs149382395 0.00042
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) rs371301968 0.00038
NM_003923.3(FOXH1):c.334G>A (p.Val112Met) rs146750489 0.00031
NM_003923.3(FOXH1):c.130T>G (p.Leu44Val) rs201691370 0.00028
NM_003923.3(FOXH1):c.499T>C (p.Phe167Leu) rs373427903 0.00025
NM_003923.3(FOXH1):c.165G>A (p.Lys55=) rs776865143 0.00016
NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr) rs752459708 0.00014
NM_003923.3(FOXH1):c.416C>A (p.Ala139Asp) rs373424413 0.00011
NM_003923.3(FOXH1):c.1056G>A (p.Ala352=) rs142762918 0.00009
NM_003923.3(FOXH1):c.477C>G (p.Pro159=) rs748361546 0.00009
NM_003923.3(FOXH1):c.487C>T (p.Pro163Ser) rs200115495 0.00009
NM_003923.3(FOXH1):c.525G>A (p.Gly175=) rs374775293 0.00009
NM_003923.3(FOXH1):c.548C>T (p.Pro183Leu) rs200095132 0.00007
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_003923.3(FOXH1):c.266G>A (p.Arg89Gln) rs755573914 0.00005
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.163A>C (p.Lys55Gln) rs759694605 0.00004
NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly) rs761837057 0.00004
NM_003923.3(FOXH1):c.609G>A (p.Ala203=) rs757842328 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.958C>T (p.Pro320Ser) rs761520666 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_003923.3(FOXH1):c.843C>T (p.Tyr281=) rs201690019 0.00002
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.282G>A (p.Val94=) rs1475464539 0.00001
NM_003923.3(FOXH1):c.468G>A (p.Pro156=) rs777440236 0.00001
NM_003923.3(FOXH1):c.54C>G (p.Ser18=) rs748058531 0.00001
NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu) rs1270394786 0.00001
NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser) rs778783647 0.00001
NM_003923.3(FOXH1):c.617C>T (p.Thr206Ile) rs763416777 0.00001
NM_003923.3(FOXH1):c.69G>A (p.Arg23=) rs895247507 0.00001
NM_003923.3(FOXH1):c.726C>T (p.Thr242=) rs760782228 0.00001
NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe) rs768693604 0.00001
NM_003923.3(FOXH1):c.889C>T (p.Pro297Ser) rs1341732331 0.00001
NM_003923.3(FOXH1):c.936G>A (p.Gly312=) rs753781123 0.00001
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr) rs770253235 0.00001
NC_000008.10:g.(?_143822561)_(145743168_?)dup
NC_000008.11:g.(?_144474218)_(144475776_?)dup
NC_000008.11:g.(?_144475137)_(144475776_?)dup
NM_003923.3(FOXH1):c.100C>T (p.Pro34Ser)
NM_003923.3(FOXH1):c.1026C>T (p.Asp342=)
NM_003923.3(FOXH1):c.1047G>A (p.Arg349=)
NM_003923.3(FOXH1):c.1050C>T (p.Asp350=)
NM_003923.3(FOXH1):c.1057G>A (p.Ala353Thr)
NM_003923.3(FOXH1):c.1060C>T (p.Pro354Ser)
NM_003923.3(FOXH1):c.1071C>T (p.Gly357=)
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>T (p.Arg61Leu)
NM_003923.3(FOXH1):c.214_217del (p.Glu72fs)
NM_003923.3(FOXH1):c.219C>T (p.Asp73=)
NM_003923.3(FOXH1):c.225G>C (p.Glu75Asp)
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.280-10_280-9insAA
NM_003923.3(FOXH1):c.292C>T (p.Pro98Ser)
NM_003923.3(FOXH1):c.296C>A (p.Ala99Glu)
NM_003923.3(FOXH1):c.2T>A (p.Met1Lys)
NM_003923.3(FOXH1):c.314G>C (p.Gly105Ala)
NM_003923.3(FOXH1):c.385C>T (p.Arg129Trp)
NM_003923.3(FOXH1):c.403G>A (p.Gly135Ser)
NM_003923.3(FOXH1):c.424A>G (p.Lys142Glu) rs1488443353
NM_003923.3(FOXH1):c.444G>C (p.Val148=)
NM_003923.3(FOXH1):c.470C>G (p.Pro157Arg)
NM_003923.3(FOXH1):c.480G>C (p.Pro160=)
NM_003923.3(FOXH1):c.48G>A (p.Ser16=)
NM_003923.3(FOXH1):c.507C>G (p.Ile169Met) rs780001651
NM_003923.3(FOXH1):c.521G>A (p.Gly174Glu)
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.606G>A (p.Glu202=)
NM_003923.3(FOXH1):c.619C>T (p.Pro207Ser)
NM_003923.3(FOXH1):c.660C>T (p.Cys220=) rs1392198480
NM_003923.3(FOXH1):c.680G>A (p.Arg227Lys)
NM_003923.3(FOXH1):c.694A>G (p.Thr232Ala)
NM_003923.3(FOXH1):c.6G>A (p.Gly2=) rs1213772350
NM_003923.3(FOXH1):c.704G>A (p.Gly235Glu)
NM_003923.3(FOXH1):c.714C>T (p.Ile238=)
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) rs1564751833
NM_003923.3(FOXH1):c.75G>A (p.Lys25=)
NM_003923.3(FOXH1):c.763C>T (p.Leu255=)
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.775G>A (p.Ala259Thr)
NM_003923.3(FOXH1):c.77A>G (p.Lys26Arg)
NM_003923.3(FOXH1):c.780T>G (p.Val260=) rs760870582
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.825G>A (p.Gly275=)
NM_003923.3(FOXH1):c.856A>C (p.Thr286Pro)
NM_003923.3(FOXH1):c.867G>A (p.Val289=)
NM_003923.3(FOXH1):c.868G>A (p.Val290Ile)
NM_003923.3(FOXH1):c.878T>G (p.Leu293Trp) rs2130035536
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.923C>T (p.Pro308Leu)
NM_003923.3(FOXH1):c.962C>A (p.Pro321Gln)
NM_003923.3(FOXH1):c.965G>A (p.Gly322Glu)
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060

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