ClinVar Miner

List of variants in gene PIGL studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.*20A>G rs15739 0.39527
NM_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_004278.4(PIGL):c.*254T>C rs144070256 0.00867
NM_004278.4(PIGL):c.*364G>A rs114659268 0.00706
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_004278.4(PIGL):c.*182A>G rs140126036 0.00231
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807 0.00083
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala) rs140211194 0.00017
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) rs148238492 0.00015
NM_004278.4(PIGL):c.493A>C (p.Arg165=) rs184077858 0.00014
NM_004278.4(PIGL):c.595T>C (p.Leu199=) rs114176862 0.00014
NM_004278.4(PIGL):c.354A>G (p.Pro118=) rs149094276 0.00010
NM_004278.4(PIGL):c.542C>T (p.Thr181Met) rs748231024 0.00010
NM_004278.4(PIGL):c.627C>T (p.Phe209=) rs146164310 0.00008
NM_004278.4(PIGL):c.336-2A>G rs369230457 0.00007
NM_004278.4(PIGL):c.*184A>C rs886052643 0.00006
NM_004278.4(PIGL):c.*324A>G rs886052645 0.00004
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500 0.00004
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_004278.4(PIGL):c.426+14T>C rs138467285 0.00003
NM_004278.4(PIGL):c.420C>T (p.Ile140=) rs374713933 0.00002
NM_004278.4(PIGL):c.660+1G>T rs768198327 0.00002
NM_004278.4(PIGL):c.724C>T (p.Arg242Trp) rs377632512 0.00002
NM_004278.4(PIGL):c.*318C>A rs146448001 0.00001
NM_004278.4(PIGL):c.130C>T (p.Leu44=) rs776742163 0.00001
NM_004278.4(PIGL):c.296T>G (p.Leu99Trp) rs1179113684 0.00001
NM_004278.4(PIGL):c.30G>T (p.Ala10=) rs147669920 0.00001
NM_004278.4(PIGL):c.480G>A (p.Leu160=) rs114697377 0.00001
NM_004278.4(PIGL):c.534T>C (p.Ser178=) rs114145762 0.00001
NM_004278.4(PIGL):c.535G>A (p.Val179Met) rs116591352 0.00001
NM_004278.4(PIGL):c.540C>T (p.Leu180=) rs115695383 0.00001
NM_004278.4(PIGL):c.*185A>C rs886052644
NM_004278.4(PIGL):c.154_161del (p.Asp52fs) rs2142610073
NM_004278.4(PIGL):c.169T>C (p.Phe57Leu) rs587784324
NM_004278.4(PIGL):c.176C>A (p.Pro59His) rs1057518948
NM_004278.4(PIGL):c.258_259del (p.Glu86fs) rs763616470
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) rs1064795400
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.398A>G (p.Gln133Arg) rs749202572
NM_004278.4(PIGL):c.426+8G>A rs145914582
NM_004278.4(PIGL):c.438C>A (p.Phe146Leu) rs773591135
NM_004278.4(PIGL):c.494+1G>A rs2142864883
NM_004278.4(PIGL):c.535G>T (p.Val179Leu) rs116591352
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) rs139004722
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro) rs750654333

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