ClinVar Miner

List of variants studied for Perrault syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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.*260A>G rs28943596 0.05395
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.*6A>G rs111671384 0.00777
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000414.4(HSD17B4):c.-28C>T rs34353289 0.00334
NM_000414.4(HSD17B4):c.*278T>A rs149665666 0.00333
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.*83T>G rs181310520 0.00199
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_000414.3(HSD17B4):c.-119C>G rs11739468 0.00087
NM_000414.4(HSD17B4):c.*135T>G rs185522709 0.00065
NM_000414.4(HSD17B4):c.*134C>T rs543194892 0.00034
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_000414.3(HSD17B4):c.-130C>T rs536737707 0.00020
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 0.00011
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00008
NM_000414.4(HSD17B4):c.112+11G>A rs775970480 0.00007
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) rs771009588 0.00003
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389 0.00002
NM_000414.4(HSD17B4):c.*123A>G rs956800775 0.00001
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) rs764406724 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822 0.00001
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) rs368915056 0.00001
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818 0.00001
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp) rs1456658488 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>A rs26180
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.349+4A>G rs2126690458
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) rs1748692405
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.74A>G (p.Tyr25Cys) rs2126610386
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) rs1750354958
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396

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.