ClinVar Miner

List of variants studied for 3 beta-Hydroxysteroid dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.*276C>T rs1819698 0.22355
NM_000198.4(HSD3B2):c.*321C>G rs1361530 0.19080
NM_000198.4(HSD3B2):c.*202A>G rs9282704 0.02229
NM_000198.4(HSD3B2):c.*96C>G rs9282703 0.02228
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546 0.01994
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954 0.00385
NM_000198.4(HSD3B2):c.*397T>A rs753468192 0.00153
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00087
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000198.4(HSD3B2):c.-106T>C rs587688647 0.00014
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000198.4(HSD3B2):c.*46C>T rs371081728 0.00009
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000198.4(HSD3B2):c.*121C>A rs886045198 0.00006
NM_000198.4(HSD3B2):c.*177C>T rs886045199 0.00006
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956 0.00002
NM_000198.4(HSD3B2):c.*411T>C rs1651940686 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000198.4(HSD3B2):c.308-14C>A rs750286630 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197 0.00001
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala) rs929360018 0.00001
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849

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.