ClinVar Miner

List of variants in gene AIP reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00111
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00109
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00080
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00035
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.973C>T (p.Arg325Trp) rs765927395 0.00010
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00010
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00008
NM_003977.4(AIP):c.561C>T (p.Asn187=) rs142037029 0.00007
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003977.4(AIP):c.724C>G (p.Leu242Val) rs772782309 0.00007
NM_003977.4(AIP):c.403C>T (p.His135Tyr) rs150487522 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_003977.4(AIP):c.940C>T (p.Arg314Trp) rs375740557 0.00005
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003977.4(AIP):c.562C>T (p.Arg188Trp) rs577617733 0.00003
NM_003977.4(AIP):c.575A>G (p.Glu192Gly) rs542237608 0.00003
NM_003977.4(AIP):c.326C>T (p.Ala109Val) rs548910485 0.00002
NM_003977.4(AIP):c.46C>T (p.Arg16Cys) rs549056286 0.00002
NM_003977.4(AIP):c.619G>A (p.Ala207Thr) rs1323279729 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.919C>T (p.Arg307Trp) rs758248161 0.00002
NM_003977.4(AIP):c.296C>T (p.Pro99Leu) rs1388668435 0.00001
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548 0.00001
NM_003977.4(AIP):c.334A>G (p.Lys112Glu) rs1489145468 0.00001
NM_003977.4(AIP):c.339C>G (p.Asp113Glu) rs1175753689 0.00001
NM_003977.4(AIP):c.345G>C (p.Leu115=) rs996404334 0.00001
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00001
NM_003977.4(AIP):c.427C>G (p.Gln143Glu) rs750938556 0.00001
NM_003977.4(AIP):c.460A>G (p.Met154Val) rs779653382 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.532G>A (p.Ala178Thr) rs762351007 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.676C>G (p.Leu226Val) rs765294583 0.00001
NM_003977.4(AIP):c.695C>T (p.Pro232Leu) rs150594019 0.00001
NM_003977.4(AIP):c.6G>A (p.Ala2=) rs1865725846 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.782A>G (p.Tyr261Cys) rs780149133 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_003977.4(AIP):c.826G>A (p.Ala276Thr) rs778575382 0.00001
NM_003977.4(AIP):c.830C>T (p.Ala277Val) rs1328538219 0.00001
NM_003977.4(AIP):c.874C>G (p.Leu292Val) rs764465139 0.00001
NM_003977.4(AIP):c.913G>A (p.Glu305Lys) rs923956036 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_003977.4(AIP):c.-2G>A rs377710724
NM_003977.4(AIP):c.25C>T (p.Arg9Trp) rs1057523115
NM_003977.4(AIP):c.341C>A (p.Pro114His) rs1865849163
NM_003977.4(AIP):c.38T>A (p.Ile13Asn) rs376913545
NM_003977.4(AIP):c.533C>T (p.Ala178Val) rs763723045
NM_003977.4(AIP):c.53T>C (p.Ile18Thr) rs773224238
NM_003977.4(AIP):c.544A>G (p.Ile182Val) rs1238521406
NM_003977.4(AIP):c.607T>C (p.Tyr203His) rs2134254920
NM_003977.4(AIP):c.645+2T>C rs1293512916
NM_003977.4(AIP):c.670A>G (p.Ile224Val) rs2495406898
NM_003977.4(AIP):c.685C>G (p.Gln229Glu) rs1400972107
NM_003977.4(AIP):c.733G>C (p.Glu245Gln) rs150645662
NM_003977.4(AIP):c.733GAG[1] (p.Glu246del) rs2495407311
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.790_792del (p.Asn264del) rs760690172
NM_003977.4(AIP):c.796A>C (p.Lys266Gln)
NM_003977.4(AIP):c.834G>A (p.Val278=) rs745914221
NM_003977.4(AIP):c.845A>G (p.Gln282Arg) rs2134256527
NM_003977.4(AIP):c.899C>T (p.Pro300Leu) rs2134256678
NM_003977.4(AIP):c.946_948del (p.Lys316del) rs766251663
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_003977.4(AIP):c.968G>A (p.Arg323Gln) rs2134256899

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