ClinVar Miner

List of variants reported as benign for Holoprosencephaly 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000193.4(SHH):c.301-49G>A rs1233555 0.48163
NM_022458.4(LMBR1):c.423+7043G>A rs10949603 0.41969
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_022458.4(LMBR1):c.424-15815A>G rs6970048 0.02733
NM_022458.4(LMBR1):c.423+6810A>G rs77727105 0.02610
NM_022458.4(LMBR1):c.424-5482T>C rs116462624 0.01536
NM_022458.4(LMBR1):c.424-5607C>T rs73741533 0.01435
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_022458.4(LMBR1):c.423+4458T>C rs77295788 0.00872
NM_022458.4(LMBR1):c.423+4468A>C rs78890432 0.00871
NM_022458.4(LMBR1):c.424-237A>G rs115905286 0.00677
NM_022458.4(LMBR1):c.424-15649G>C rs188992894 0.00623
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_022458.4(LMBR1):c.424-15833T>C rs150658639 0.00434
NM_022458.4(LMBR1):c.423+6862A>C rs139601576 0.00384
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_022458.4(LMBR1):c.424-5551T>G rs78118131 0.00239
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_022458.4(LMBR1):c.423+111G>A rs114781898 0.00228
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_022458.4(LMBR1):c.423+4505A>G rs76511713 0.00163
NM_022458.4(LMBR1):c.424-5603C>G rs76709606 0.00150
NM_022458.4(LMBR1):c.424-15786G>A rs112621739 0.00128
NM_022458.4(LMBR1):c.423+117A>G rs149671193 0.00106
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074
NM_022458.4(LMBR1):c.424-5478G>A rs546513589 0.00039
NM_000193.4(SHH):c.562+16C>A rs552346452 0.00015
NM_000193.4(SHH):c.825G>A (p.Ala275=) rs587778813 0.00003
NM_000193.4(SHH):c.1005G>A (p.Val335=) rs587778774 0.00001
NM_000193.4(SHH):c.1164T>C (p.Ala388=)
NM_000193.4(SHH):c.301-18del
NM_000193.4(SHH):c.585G>A (p.Ser195=) rs372353493
NM_000193.4(SHH):c.780G>A (p.Pro260=)
NM_022458.4(LMBR1):c.423+7000_423+7003del rs533793951
NM_022458.4(LMBR1):c.423+7004A>G
NM_022458.4(LMBR1):c.424-15560G>A
NM_022458.4(LMBR1):c.424-218dup rs200856353
NM_022458.4(LMBR1):c.424-414C>T
NM_022458.4(LMBR1):c.424-5301G>A rs375863418
NM_022458.4(LMBR1):c.424-5621G>T
NM_022458.4(LMBR1):c.424-5633del
NM_022458.4(LMBR1):c.424-5651G>A

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.