ClinVar Miner

List of variants studied for Leber congenital amaurosis 11 by Illumina Laboratory Services, Illumina

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075 0.26135
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550 0.13918
NM_000883.4(IMPDH1):c.*228G>A rs72624976 0.01836
NM_000883.4(IMPDH1):c.*634C>T rs1803822 0.01623
NM_000883.4(IMPDH1):c.*597G>A rs1803821 0.01620
NM_000883.4(IMPDH1):c.-69T>G rs72624936 0.01538
NM_000883.4(IMPDH1):c.*276C>T rs72624977 0.00426
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010 0.00246
NM_000883.4(IMPDH1):c.1074+6G>T rs61751224 0.00239
NM_000883.4(IMPDH1):c.1074+7C>T rs72624958 0.00237
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) rs61751223 0.00212
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_000883.4(IMPDH1):c.*721G>A rs186714165 0.00177
NM_000883.4(IMPDH1):c.*613T>C rs11549800 0.00123
NM_000883.4(IMPDH1):c.*196C>T rs72624974 0.00106
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00081
NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) rs143796089 0.00063
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_000883.4(IMPDH1):c.*102G>T rs541712803 0.00043
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635 0.00040
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957 0.00031
NM_000883.4(IMPDH1):c.*642G>A rs574318258 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_000883.4(IMPDH1):c.*231C>G rs1042267 0.00024
NM_000883.4(IMPDH1):c.-73G>C rs906905615 0.00021
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304 0.00019
NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) rs201803921 0.00019
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) rs946898300 0.00018
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) rs375914533 0.00017
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) rs145014241 0.00016
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) rs150531977 0.00013
NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) rs139785999 0.00011
NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) rs373353058 0.00010
NM_000883.4(IMPDH1):c.-77G>C rs1002641912 0.00008
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) rs150278198 0.00006
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) rs763999626 0.00005
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373 0.00005
NM_000883.4(IMPDH1):c.146+9C>T rs749118285 0.00005
NM_000883.4(IMPDH1):c.*259G>A rs535964010 0.00004
NM_000883.4(IMPDH1):c.*544G>A rs142941122 0.00004
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) rs1042250 0.00004
NM_000883.4(IMPDH1):c.*321G>T rs571536404 0.00003
NM_000883.4(IMPDH1):c.-59G>A rs886061985 0.00003
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873 0.00003
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) rs756992593 0.00002
NM_000883.4(IMPDH1):c.*258C>T rs886061981 0.00001
NM_000883.4(IMPDH1):c.*631C>T rs760544024 0.00001
NM_000883.4(IMPDH1):c.*694C>A rs1179467429 0.00001
NM_000883.4(IMPDH1):c.*722C>T rs886061980 0.00001
NM_000883.4(IMPDH1):c.-13C>T rs1373186956 0.00001
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) rs564132747 0.00001
NM_000883.4(IMPDH1):c.255-10C>T rs1478038443 0.00001
NM_000883.4(IMPDH1):c.*105T>A rs886061983
NM_000883.4(IMPDH1):c.*130A>G rs1797626715
NM_000883.4(IMPDH1):c.*137G>C rs72624973
NM_000883.4(IMPDH1):c.*168G>A rs531478376
NM_000883.4(IMPDH1):c.*202C>T rs886061982
NM_000883.4(IMPDH1):c.*223C>A rs543042380
NM_000883.4(IMPDH1):c.*223C>G rs543042380
NM_000883.4(IMPDH1):c.*223C>T rs543042380
NM_000883.4(IMPDH1):c.*256T>C rs752294619
NM_000883.4(IMPDH1):c.*321G>A rs571536404
NM_000883.4(IMPDH1):c.*410G>A rs530960760
NM_000883.4(IMPDH1):c.-17T>C rs1799034671
NM_000883.4(IMPDH1):c.1075-3C>T rs1797968829
NM_000883.4(IMPDH1):c.146+6G>T rs1799017366
NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser) rs367951647
NM_000883.4(IMPDH1):c.1695-11C>T rs1797754885
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) rs886061984
NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp) rs376769056
NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala) rs979315605
NM_000883.4(IMPDH1):c.795G>A (p.Thr265=) rs757423102

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