ClinVar Miner

List of variants in gene HSD17B4 studied for Perrault syndrome 1

Included ClinVar conditions (2):
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Total variants: 70
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HGVS dbSNP
NC_000005.10:g.119452446C>T
NC_000005.10:g.119452457C>G
NM_000414.4(HSD17B4):c.*123A>G
NM_000414.4(HSD17B4):c.*134C>T rs543194892
NM_000414.4(HSD17B4):c.*135T>G rs185522709
NM_000414.4(HSD17B4):c.*260A>G rs28943596
NM_000414.4(HSD17B4):c.*278T>A rs149665666
NM_000414.4(HSD17B4):c.*6A>G rs111671384
NM_000414.4(HSD17B4):c.*83T>G rs181310520
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-28C>T rs34353289
NM_000414.4(HSD17B4):c.-75C>A
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893
NM_000414.4(HSD17B4):c.112+11G>A
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile) rs1085307072
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)
NM_000414.4(HSD17B4):c.622+5G>A rs536487449
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.715-13C>T rs185869017
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120

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