ClinVar Miner

List of variants in gene AIP studied for connective tissue disorder

Included ClinVar conditions (343):
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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199 0.99984
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_003977.4(AIP):c.*64G>A rs115346238 0.00596
NM_003977.4(AIP):c.*60G>C rs146014363 0.00566
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586 0.00545
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.-84C>G rs540839310 0.00086
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_003977.4(AIP):c.-23A>G rs200665479 0.00064
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 0.00038
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993 0.00016
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418 0.00013
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147 0.00009
NM_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385 0.00007
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
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.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_003977.4(AIP):c.-5G>C rs267606562 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586 0.00003
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061 0.00002
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00002
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 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.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.468+3G>A rs868823652 0.00001
NM_003977.4(AIP):c.469-17T>C rs886037872 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.792C>T (p.Asn264=) rs780707460 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T rs1565180279
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.279G>A (p.Lys93=)
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.301_423del (p.Val101_Leu141del)
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
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.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.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
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.662C>T (p.Pro221Leu) rs1426023503
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.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>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.787+10G>A rs776322323
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>G (p.Phe269Leu)
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.844dup (p.Gln282fs)
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587

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