ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter) rs1553329745 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.2567del (p.Leu856fs) rs1357839545 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter) rs777676427 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter) rs587777087 0.00001
NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter) rs1665288663 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.455_462dup (p.Val155fs) rs1455656088 0.00001
NM_015662.3(IFT172):c.4597dup (p.Thr1533fs) rs1183354903 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NC_000002.11:g.(?_27667299)_(27677547_?)del
NC_000002.11:g.(?_27693775)_(27695249_?)del
NC_000002.12:g.(?_27462701)_(27463181_?)del
NC_000002.12:g.27444516_27444526del
NC_000002.12:g.27456649_27456656del
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter) rs201862538
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1100_1103dup (p.Tyr368Ter) rs2465990477
NM_015662.3(IFT172):c.1115dup (p.His372fs) rs2148544061
NM_015662.3(IFT172):c.1209del (p.Phe403fs) rs2148542989
NM_015662.3(IFT172):c.1315dup (p.His439fs) rs2465984168
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs) rs1558404443
NM_015662.3(IFT172):c.1412-1G>C rs1667637536
NM_015662.3(IFT172):c.1412-2A>G rs1318391650
NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) rs1668686361
NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter) rs1375216897
NM_015662.3(IFT172):c.1671_1672dup (p.Val558fs) rs587777083
NM_015662.3(IFT172):c.1701del (p.Val567_Ile568insTer)
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs) rs1369586774
NM_015662.3(IFT172):c.189_192del (p.Lys65fs) rs2466036018
NM_015662.3(IFT172):c.2043_2044del (p.Phe681fs)
NM_015662.3(IFT172):c.2078del (p.Lys693fs) rs1444591972
NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter) rs2148507566
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter) rs2465878992
NM_015662.3(IFT172):c.2224_2236dup (p.Trp746Ter) rs2465878777
NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter) rs2465878804
NM_015662.3(IFT172):c.2237G>A (p.Trp746Ter)
NM_015662.3(IFT172):c.2456_2457del (p.Leu818_Phe819insTer)
NM_015662.3(IFT172):c.2584dup (p.Asp862fs) rs1489674192
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter) rs1309394469
NM_015662.3(IFT172):c.2760dup (p.His921fs) rs2465864227
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter) rs144450109
NM_015662.3(IFT172):c.3426del (p.Glu1143fs) rs1572740187
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter) rs983926349
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs) rs2465836142
NM_015662.3(IFT172):c.3634G>T (p.Glu1212Ter)
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs) rs2465835863
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) rs1366937730
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs) rs1213456960
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter) rs778898472
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter) rs2148485970
NM_015662.3(IFT172):c.410T>G (p.Leu137Ter)
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs) rs2148477695
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs) rs2465805898
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter) rs2465802780
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs) rs1665095139
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) rs786205855
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4853del (p.Ser1618fs) rs2148467030
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter) rs760097703
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter) rs1664975368
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.691del (p.Thr231fs) rs2466009165
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) rs1250676888
NM_015662.3(IFT172):c.875del (p.Leu292fs) rs1478841179
NM_015662.3(IFT172):c.952C>T (p.Arg318Ter) rs751177541
NM_015662.3(IFT172):c.978dup (p.Glu327Ter) rs2465998558

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