ClinVar Miner

List of variants studied for 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000197.2(HSD17B3):c.-39A>G rs2066474 0.19625
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480 0.01154
NM_000197.2(HSD17B3):c.-10G>C rs2066484 0.01032
NM_000197.2(HSD17B3):c.-29A>G rs2066476 0.01018
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) rs8190555 0.00740
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478 0.00665
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_000197.2(HSD17B3):c.9C>T (p.Asp3=) rs139582148 0.00056
NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) rs35189151 0.00054
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000197.2(HSD17B3):c.663C>T (p.Val221=) rs139149152 0.00015
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000197.2(HSD17B3):c.489+9T>C rs370307178 0.00009
NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr) rs150424854 0.00006
NM_000197.2(HSD17B3):c.441G>A (p.Pro147=) rs188471808 0.00005
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065 0.00004
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu) rs372027264 0.00004
NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly) rs370264627 0.00004
NM_000197.2(HSD17B3):c.880C>T (p.Leu294=) rs762619509 0.00004
NM_000197.2(HSD17B3):c.-34C>T rs759418931 0.00002
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085 0.00002
NM_000197.1(HSD17B3):c.194C>T rs747329682 0.00001
NM_000197.2(HSD17B3):c.-6G>A rs200708778 0.00001
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078 0.00001
NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) rs1017003712 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000197.2(HSD17B3):c.540C>T (p.Ile180=) rs563341078 0.00001
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) rs119481074 0.00001
NM_000197.1(HSD17B3):c.[194C>T];[239G>A]
NM_000197.2(HSD17B3):c.*148C>A rs778147562
NM_000197.2(HSD17B3):c.*1C>T rs1554691418
NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)
NM_000197.2(HSD17B3):c.16del (p.Glu6fs)
NM_000197.2(HSD17B3):c.1A>G (p.Met1Val)
NM_000197.2(HSD17B3):c.201+1G>A
NM_000197.2(HSD17B3):c.202-1G>A rs1378603446
NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_000197.2(HSD17B3):c.252del (p.Lys84fs)
NM_000197.2(HSD17B3):c.257_265del (p.Glu86_Ile88del)
NM_000197.2(HSD17B3):c.277+5G>A
NM_000197.2(HSD17B3):c.277G>A (p.Glu93Lys)
NM_000197.2(HSD17B3):c.278-6G>C rs2066483
NM_000197.2(HSD17B3):c.2T>C (p.Met1Thr)
NM_000197.2(HSD17B3):c.376G>A (p.Gly126Arg)
NM_000197.2(HSD17B3):c.385+5G>A rs1564030844
NM_000197.2(HSD17B3):c.386-5G>A rs1045653050
NM_000197.2(HSD17B3):c.435C>T (p.Asn145=) rs115684579
NM_000197.2(HSD17B3):c.490-4G>T rs1313736012
NM_000197.2(HSD17B3):c.527A>C (p.Gln176Pro)
NM_000197.2(HSD17B3):c.590T>A (p.Met197Lys)
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000197.2(HSD17B3):c.639del (p.Glu214fs)
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)
NM_000197.2(HSD17B3):c.65dup (p.Lys23fs)
NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)
NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)
NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080
NM_000197.2(HSD17B3):c.812A>G (p.His271Arg)

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.