ClinVar Miner

List of variants reported as benign for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.40811
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.13537
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03699
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.02883
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000414.4(HSD17B4):c.740-16T>G rs35416500 0.00789
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00366
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00192
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00175
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00012
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00009
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000414.4(HSD17B4):c.1209+17del
NM_000414.4(HSD17B4):c.1209+17dup rs757093469
NM_000414.4(HSD17B4):c.1210-17del rs781059702
NM_000414.4(HSD17B4):c.1334-4del rs2126813978
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1503+16dup rs2531841479
NM_000414.4(HSD17B4):c.1503+22del rs2531841534
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr) rs73790880
NM_000414.4(HSD17B4):c.1767+18del rs1386476130
NM_000414.4(HSD17B4):c.302+23del rs2531609736
NM_000414.4(HSD17B4):c.715-13dup
NM_000414.4(HSD17B4):c.739+20dup rs2531693796
NM_000414.4(HSD17B4):c.972+15del rs763801604

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.