ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly sequence by Invitae

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321 0.00045
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.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.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.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.1004C>T (p.Pro335Leu) rs1421316442 0.00001
NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn) rs536501327 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.727C>T (p.Leu243Phe) rs768693604 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
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.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>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.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.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.704G>A (p.Gly235Glu)
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) rs1564751833
NM_003923.3(FOXH1):c.77A>G (p.Lys26Arg)
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)

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