ClinVar Miner

List of variants in gene PIGL reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_004278.4(PIGL):c.*184A>C rs886052643
NM_004278.4(PIGL):c.*185A>C rs886052644
NM_004278.4(PIGL):c.*318C>A
NM_004278.4(PIGL):c.*324A>G rs886052645
NM_004278.4(PIGL):c.130C>T (p.Leu44=)
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.263G>A (p.Arg88His) rs755380500
NM_004278.4(PIGL):c.296T>G (p.Leu99Trp)
NM_004278.4(PIGL):c.30G>T (p.Ala10=) rs147669920
NM_004278.4(PIGL):c.336-2A>G rs369230457
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807
NM_004278.4(PIGL):c.354A>G (p.Pro118=) rs149094276
NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)
NM_004278.4(PIGL):c.420C>T (p.Ile140=) rs374713933
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004278.4(PIGL):c.426+14T>C rs138467285
NM_004278.4(PIGL):c.426+8G>A rs145914582
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) rs148238492
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala) rs140211194
NM_004278.4(PIGL):c.480G>A (p.Leu160=) rs114697377
NM_004278.4(PIGL):c.493A>C (p.Arg165=) rs184077858
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) rs150000731
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004278.4(PIGL):c.526+10G>A rs138410893
NM_004278.4(PIGL):c.534T>C (p.Ser178=) rs114145762
NM_004278.4(PIGL):c.535G>A (p.Val179Met) rs116591352
NM_004278.4(PIGL):c.535G>T (p.Val179Leu)
NM_004278.4(PIGL):c.540C>T (p.Leu180=) rs115695383
NM_004278.4(PIGL):c.542C>T (p.Thr181Met) rs748231024
NM_004278.4(PIGL):c.595T>C (p.Leu199=) rs114176862
NM_004278.4(PIGL):c.627C>T (p.Phe209=) rs146164310
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) rs139004722
NM_004278.4(PIGL):c.724C>T (p.Arg242Trp)
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro)

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