ClinVar Miner

List of variants studied for Holoprosencephaly sequence by Invitae

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Total variants: 25
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HGVS dbSNP
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.1077G>A (p.Leu359=) rs7833404
NM_003923.3(FOXH1):c.15C>T (p.Ser5=) rs374587860
NM_003923.3(FOXH1):c.266G>A (p.Arg89Gln) rs755573914
NM_003923.3(FOXH1):c.282G>A (p.Val94=) rs1475464539
NM_003923.3(FOXH1):c.334G>A (p.Val112Met)
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)
NM_003923.3(FOXH1):c.450C>T (p.His150=) rs2721177
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802
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.746C>T (p.Ala249Val) rs1564751833
NM_003923.3(FOXH1):c.771C>A (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114
NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr) rs769660425
NM_003923.3(FOXH1):c.912G>A (p.Pro304=) rs141411287
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr)
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060

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