ClinVar Miner

List of variants in gene FOXH1 reported as uncertain significance for Holoprosencephaly sequence

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Total variants: 24
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HGVS dbSNP
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.-446T>C rs886062758
NM_003923.2(FOXH1):c.-506G>A rs886062759
NM_003923.3(FOXH1):c.*23C>T rs541830947
NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu)
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.260C>G (p.Ser87Cys) rs886062755
NM_003923.3(FOXH1):c.266G>A (p.Arg89Gln) rs755573914
NM_003923.3(FOXH1):c.334G>A (p.Val112Met)
NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln)
NM_003923.3(FOXH1):c.389G>A (p.Arg130His) rs886062754
NM_003923.3(FOXH1):c.442G>A (p.Val148Met) rs886062753
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.700C>T (p.Gln234Ter) rs1564751909
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val) rs1564751833
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.933G>C (p.Trp311Cys) rs140090667
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr)

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