ClinVar Miner

List of variants in gene FOXH1 reported as benign for Holoprosencephaly sequence

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_003923.3(FOXH1):c.*20A>G rs2721176 0.98630
NM_003923.2(FOXH1):c.-314T>G rs750472 0.50411
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_003923.2(FOXH1):c.-333T>C rs147276162 0.00303
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114 0.00285
NM_003923.3(FOXH1):c.-27C>A rs377382539 0.00258
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802 0.00241
NM_003923.3(FOXH1):c.-54C>T rs187197849 0.00138
NM_003923.2(FOXH1):c.-307G>A rs145418332 0.00118
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.525G>A (p.Gly175=) rs374775293 0.00009
NM_003923.3(FOXH1):c.617C>T (p.Thr206Ile) rs763416777 0.00001
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.912G>A (p.Pro304=) rs141411287
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060

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