ClinVar Miner

List of variants reported by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_005548.3(KARS1):c.787T>G (p.Phe263Val) rs772410450 0.00001
NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr) rs755447989 0.00001
NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter) rs766829965 0.00001
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210 0.00001
NM_024649.5(BBS1):c.1473+4A>G rs1486200900 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_052988.5(CDK10):c.1070G>A (p.Arg357His) rs772157816 0.00001
NM_052988.5(CDK10):c.664_665del (p.Met222fs) rs767050911 0.00001
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val) rs200956405 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NC_000002.12:g.169477282_169483199del
NC_000004.11:g.148550590_148578202dup
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) rs1569077441
NM_001256012.3(MYH10):c.3352AAG[1] (p.Lys1119del)
NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro) rs755969165
NM_001256012.3(MYH10):c.4884+1G>A rs2151813002
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn) rs2037752645
NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs)
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter) rs1248541208
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs)
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs)
NM_001692.4(ATP6V1B1):c.175-1G>C rs1572919267
NM_002804.5(PSMC3):c.1127+337A>G rs1177898071
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs) rs1555474009
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]
NM_024649.4:c.160-?_1110+?del
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp) rs1363498219
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_032132.5(HORMAD1):c.1021C>T (p.Gln341Ter)
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.220G>A (p.Ala74Thr)
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_052988.4:c.(87+1_88-1)_(232+1_233-1)del
NM_052988.5(CDK10):c.161-1G>C
NM_052988.5(CDK10):c.226A>T (p.Lys76Ter)
NM_052988.5(CDK10):c.24C>A (p.Cys8Ter)
NM_052988.5(CDK10):c.25G>C (p.Glu9Gln)
NM_052988.5(CDK10):c.452T>C (p.Leu151Pro)
NM_052988.5(CDK10):c.461T>C (p.Leu154Pro)
NM_052988.5(CDK10):c.503del (p.Asn168fs)
NM_052988.5(CDK10):c.608+1G>A rs771066826
NM_052988.5(CDK10):c.625CTG[1] (p.Leu211del)
NM_052988.5(CDK10):c.792G>A (p.Pro264=)
NM_052988.5(CDK10):c.87+5G>A
NM_138364.3:c.(846+1_847-1)_(1330+1_1331-1)del
NM_138364.4(PRMT9):c.106_107del (p.Leu36fs)
NM_138364.4(PRMT9):c.1075C>T (p.Arg359Ter)
NM_138364.4(PRMT9):c.1143del (p.Gln382fs)
NM_138364.4(PRMT9):c.1144C>A (p.Gln382Lys)
NM_138364.4(PRMT9):c.1318C>T (p.Gln440Ter)
NM_138364.4(PRMT9):c.1772T>C (p.Phe591Ser)
NM_138364.4(PRMT9):c.1918dup (p.Val640fs)
NM_138364.4(PRMT9):c.219G>A (p.Trp73Ter)
NM_138364.4(PRMT9):c.2342del (p.Gly781fs)
NM_138364.4(PRMT9):c.2356dup (p.Ile786fs)
NM_138364.4(PRMT9):c.2405C>T (p.Thr802Ile)
NM_138364.4(PRMT9):c.257T>A (p.Leu86Ter)
NM_138364.4(PRMT9):c.258_261del (p.Leu87fs)
NM_138364.4(PRMT9):c.270T>G (p.Tyr90Ter)
NM_138364.4(PRMT9):c.415G>T (p.Glu139Ter)
NM_138364.4(PRMT9):c.491del (p.Thr164fs)
NM_138364.4(PRMT9):c.545del (p.Leu182fs)
NM_138364.4(PRMT9):c.554G>A (p.Gly185Glu)
NM_138364.4(PRMT9):c.565G>A (p.Gly189Arg)
NM_138364.4(PRMT9):c.576-2A>G
NM_138364.4(PRMT9):c.836del (p.Leu279fs)
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn)
NM_152558.5(IQCE):c.1350_1353del rs760694987
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_170784.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450

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