ClinVar Miner

List of variants in gene AIP studied for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.*60G>C rs146014363
NM_003977.4(AIP):c.*64G>A rs115346238
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-23A>G rs200665479
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-5G>C rs267606562
NM_003977.4(AIP):c.-84C>G rs540839310
NM_003977.4(AIP):c.-85C>T
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907
NM_003977.4(AIP):c.135C>T (p.Asp45=) rs181969066
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>A (p.Gly83=)
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550
NM_003977.4(AIP):c.3G>A (p.Met1Ile) rs886037871
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.429G>A (p.Gln143=) rs267606553
NM_003977.4(AIP):c.468+16G>T rs267607273
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.468+3G>A rs868823652
NM_003977.4(AIP):c.469-17T>C rs886037872
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.714C>T (p.Cys238=) rs267606570
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587

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