ClinVar Miner

List of variants studied for autosomal recessive disease by Service de Génétique Moléculaire, Hôpital Robert Debré

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_025009.5(CEP135):c.2971A>G (p.Met991Val) rs115646074 0.00232
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp) rs141491316 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018249.6(CDK5RAP2):c.449G>A (p.Arg150Gln) rs199723328 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=) rs140513521 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs1453839157 0.00001
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771 0.00001
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000123.3:c.89-?_528+?del
NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) rs1213710245
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001163809.2(WDR81):c.2167G>A (p.Glu723Lys)
NM_001163809.2(WDR81):c.4085T>C (p.Met1362Thr)
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
NM_001194998.2(CEP152):c.833-1G>C
NM_001353108.3(CEP63):c.790-2A>G
NM_014321.4(ORC6):c.360-1G>T
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
NM_018136.5(ASPM):c.3741+1G>C
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.804del (p.Val269fs)
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8702del (p.His2901fs)
NM_018249.6(CDK5RAP2):c.3723-2A>C
NM_018249.6(CDK5RAP2):c.968del (p.Gly322_Leu323insTer)
NM_018451.5(CENPJ):c.1426C>T (p.Gln476Ter)
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_025009.5(CEP135):c.2389C>T (p.Arg797Cys)
NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)
NM_025009.5(CEP135):c.3215+2T>C

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