ClinVar Miner

List of variants reported as likely benign 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: 39
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HGVS dbSNP gnomAD frequency
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.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.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.266G>A (p.Arg89Gln) rs755573914 0.00005
NM_003923.3(FOXH1):c.163A>C (p.Lys55Gln) rs759694605 0.00004
NM_003923.3(FOXH1):c.609G>A (p.Ala203=) rs757842328 0.00004
NM_003923.3(FOXH1):c.843C>T (p.Tyr281=) rs201690019 0.00002
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.69G>A (p.Arg23=) rs895247507 0.00001
NM_003923.3(FOXH1):c.726C>T (p.Thr242=) rs760782228 0.00001
NM_003923.3(FOXH1):c.936G>A (p.Gly312=) rs753781123 0.00001
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.1071C>T (p.Gly357=)
NM_003923.3(FOXH1):c.219C>T (p.Asp73=)
NM_003923.3(FOXH1):c.280-10_280-9insAA
NM_003923.3(FOXH1):c.444G>C (p.Val148=)
NM_003923.3(FOXH1):c.480G>C (p.Pro160=)
NM_003923.3(FOXH1):c.48G>A (p.Ser16=)
NM_003923.3(FOXH1):c.606G>A (p.Glu202=)
NM_003923.3(FOXH1):c.660C>T (p.Cys220=) rs1392198480
NM_003923.3(FOXH1):c.6G>A (p.Gly2=) rs1213772350
NM_003923.3(FOXH1):c.714C>T (p.Ile238=)
NM_003923.3(FOXH1):c.75G>A (p.Lys25=)
NM_003923.3(FOXH1):c.763C>T (p.Leu255=)
NM_003923.3(FOXH1):c.780T>G (p.Val260=) rs760870582
NM_003923.3(FOXH1):c.825G>A (p.Gly275=)
NM_003923.3(FOXH1):c.867G>A (p.Val289=)
NM_003923.3(FOXH1):c.912G>T (p.Pro304=) rs141411287
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060

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