ClinVar Miner

List of variants reported as benign for Holoprosencephaly sequence by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003923.3(FOXH1):c.*20A>G rs2721176 0.98630
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_003923.2(FOXH1):c.-314T>G rs750472 0.50411
NM_016952.4(CDON):c.*4135C>T rs4937076 0.48573
NM_018055.5(NODAL):c.*740T>C rs2279253 0.45837
NM_018055.5(NODAL):c.*722G>C rs2279254 0.43411
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
NM_003244.4(TGIF1):c.-33C>A rs238132 0.16021
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) rs80356380 0.03705
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_018055.5(NODAL):c.*479C>T rs80138796 0.01102
NM_018055.5(NODAL):c.*886G>A rs58468830 0.01100
NM_018055.5(NODAL):c.*404T>C rs77232076 0.01099
NM_018055.5(NODAL):c.*62A>T rs76889088 0.01097
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
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_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571 0.00124
NM_003923.2(FOXH1):c.-307G>A rs145418332 0.00118
NM_001369769.2(KIFC2):c.*377C>A rs576710211 0.00052
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) rs371301968 0.00038
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171 0.00038
NM_001369769.2(KIFC2):c.*794G>A rs192907579 0.00031
NM_001369769.2(KIFC2):c.*538G>A rs74360910 0.00024
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_003244.4(TGIF1):c.*274del rs34622075
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.984C>G (p.Asp328Glu) rs117754060
NM_018055.5(NODAL):c.*356G>A rs556853359

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.