ClinVar Miner

List of variants reported as benign for Bifunctional peroxisomal enzyme deficiency; Perrault syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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 0.41131
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
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.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00033
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
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
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
NM_000414.4(HSD17B4):c.1503+22del
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
NM_000414.4(HSD17B4):c.1767+18del
NM_000414.4(HSD17B4):c.302+23del
NM_000414.4(HSD17B4):c.715-13dup
NM_000414.4(HSD17B4):c.739+20dup
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.