ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_001102564.3(IFT43):c.516C>T (p.Val172=) rs372647793 0.00033
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) rs150616080 0.00025
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) rs147933112 0.00024
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001102564.3(IFT43):c.444+5G>A rs377078385 0.00017
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter) rs201794999 0.00007
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) rs778799892 0.00006
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) rs554856028 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001102564.3(IFT43):c.397C>T (p.Arg133Cys) rs372547166 0.00005
NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser) rs144327903 0.00004
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) rs759241440 0.00004
NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu) rs202182087 0.00003
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001102564.3(IFT43):c.296-5681A>G rs755977535 0.00002
NM_001102564.3(IFT43):c.398G>A (p.Arg133His) rs755396441 0.00002
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) rs1483926431 0.00002
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) rs756786140 0.00001
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly) rs1023671414 0.00001
NM_001102564.3(IFT43):c.311C>T (p.Pro104Leu) rs144547737 0.00001
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) rs756188997 0.00001
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) rs749145719 0.00001
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) rs1359937590 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) rs1414874776 0.00001
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) rs371422510 0.00001
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) rs141866033 0.00001
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) rs894168247 0.00001
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) rs764790125 0.00001
NM_001102564.3(IFT43):c.103A>G (p.Asn35Asp)
NM_001102564.3(IFT43):c.128C>G (p.Ser43Cys)
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.147+3G>A
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
NM_001102564.3(IFT43):c.16G>A (p.Asp6Asn)
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
NM_001102564.3(IFT43):c.215+18A>G
NM_001102564.3(IFT43):c.26A>G (p.Glu9Gly)
NM_001102564.3(IFT43):c.296-5654A>G
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001102564.3(IFT43):c.296-5691_296-5687delinsAAAAA
NM_001102564.3(IFT43):c.299T>C (p.Ile100Thr)
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) rs776120367
NM_001102564.3(IFT43):c.337G>C (p.Asp113His)
NM_001102564.3(IFT43):c.352G>A (p.Val118Met)
NM_001102564.3(IFT43):c.368+1G>A
NM_001102564.3(IFT43):c.369-11C>A
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001102564.3(IFT43):c.449G>A (p.Gly150Glu)
NM_001102564.3(IFT43):c.468C>T (p.Leu156=) rs563086463
NM_001102564.3(IFT43):c.477del (p.Val160fs)
NM_001102564.3(IFT43):c.507+4C>G
NM_001102564.3(IFT43):c.508-3C>T
NM_001102564.3(IFT43):c.55del (p.Arg19fs)
NM_001102564.3(IFT43):c.592_594del (p.Lys198del) rs753836897
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) rs1330242492

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