ClinVar Miner

List of variants studied for cone-rod dystrophy 9 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_003816.3(ADAM9):c.701C>T (p.Ala234Val) rs113649109 0.04523
NM_003816.3(ADAM9):c.78C>A (p.Val26=) rs148707472 0.04055
NM_003816.3(ADAM9):c.1218A>G (p.Pro406=) rs35438678 0.03634
NM_003816.3(ADAM9):c.1071C>T (p.His357=) rs61753674 0.00852
NM_003816.3(ADAM9):c.*954A>T rs368056753 0.00453
NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys) rs61753672 0.00344
NM_003816.3(ADAM9):c.*486A>G rs147547357 0.00267
NM_003816.3(ADAM9):c.280G>A (p.Val94Ile) rs146980702 0.00258
NM_003816.3(ADAM9):c.2210+14T>C rs199880101 0.00215
NM_003816.3(ADAM9):c.914+8T>A rs377447230 0.00173
NM_003816.3(ADAM9):c.*740G>A rs117938349 0.00101
NM_003816.3(ADAM9):c.1697+15G>A rs185475790 0.00092
NM_003816.3(ADAM9):c.1728G>A (p.Glu576=) rs139284078 0.00081
NM_003816.3(ADAM9):c.*1441A>G rs547181005 0.00062
NM_003816.3(ADAM9):c.1394G>A (p.Arg465Gln) rs78001852 0.00042
NM_003816.3(ADAM9):c.2091C>T (p.Asp697=) rs138938731 0.00041
NM_003816.3(ADAM9):c.2065A>G (p.Asn689Asp) rs146127999 0.00038
NM_003816.3(ADAM9):c.1130+8C>G rs368693989 0.00025
NM_003816.3(ADAM9):c.1269C>T (p.Asp423=) rs149572348 0.00024
NM_003816.3(ADAM9):c.*442A>G rs767864150 0.00022
NM_003816.3(ADAM9):c.2069-4C>A rs200233670 0.00019
NM_003816.3(ADAM9):c.887G>A (p.Arg296Gln) rs140082569 0.00016
NM_003816.3(ADAM9):c.1236T>C (p.Tyr412=) rs78451751 0.00015
NM_003816.3(ADAM9):c.*1126T>C rs747928783 0.00013
NM_003816.3(ADAM9):c.*1310C>G rs528849864 0.00011
NM_003816.3(ADAM9):c.1501A>G (p.Asn501Asp) rs140137562 0.00010
NM_003816.3(ADAM9):c.1362G>A (p.Glu454=) rs143095614 0.00009
NM_003816.3(ADAM9):c.*1419G>C rs544157826 0.00008
NM_003816.3(ADAM9):c.*629C>T rs886062926 0.00007
NM_003816.3(ADAM9):c.*218G>A rs746792447 0.00006
NM_003816.3(ADAM9):c.2300C>T (p.Pro767Leu) rs141863787 0.00005
NM_003816.3(ADAM9):c.1023T>A (p.Phe341Leu) rs143659261 0.00004
NM_003816.3(ADAM9):c.2104T>G (p.Phe702Val) rs568176855 0.00004
NM_003816.3(ADAM9):c.356A>G (p.Tyr119Cys) rs376349029 0.00004
NM_003816.3(ADAM9):c.798C>G (p.Thr266=) rs190620963 0.00004
NM_003816.3(ADAM9):c.1530C>G (p.Ala510=) rs773746485 0.00003
NM_003816.3(ADAM9):c.1698-10C>T rs150861658 0.00003
NM_003816.3(ADAM9):c.*623T>C rs993166563 0.00002
NM_003816.3(ADAM9):c.1130+10T>G rs1034574036 0.00002
NM_003816.3(ADAM9):c.1546A>G (p.Met516Val) rs774523542 0.00002
NM_003816.3(ADAM9):c.2084T>G (p.Leu695Trp) rs886062924 0.00002
NM_003816.2(ADAM9):c.*1571A>G rs1317353655 0.00001
NM_003816.3(ADAM9):c.*132C>T rs763045109 0.00001
NM_003816.3(ADAM9):c.*936A>G rs772762813 0.00001
NM_003816.3(ADAM9):c.-18C>G rs376347476 0.00001
NM_003816.3(ADAM9):c.1085A>G (p.Asp362Gly) rs751054116 0.00001
NM_003816.3(ADAM9):c.1449A>G (p.Pro483=) rs1440139690 0.00001
NM_003816.3(ADAM9):c.1528G>A (p.Ala510Thr) rs769316562 0.00001
NM_003816.3(ADAM9):c.315T>G (p.Thr105=) rs771587211 0.00001
NM_003816.3(ADAM9):c.394G>T (p.Asp132Tyr) rs761792735 0.00001
NM_003816.3(ADAM9):c.504C>T (p.Val168=) rs886062922 0.00001
NM_003816.3(ADAM9):c.*1089C>T rs1839813030
NM_003816.3(ADAM9):c.*1396A>C rs750531921
NM_003816.3(ADAM9):c.*483A>G rs1839790877
NM_003816.3(ADAM9):c.*573A>G rs1839793768
NM_003816.3(ADAM9):c.*995A>C rs886062928
NM_003816.3(ADAM9):c.1419C>T (p.Cys473=) rs1056021266
NM_003816.3(ADAM9):c.1560T>C (p.Tyr520=) rs1019687054
NM_003816.3(ADAM9):c.1698-10C>G rs150861658
NM_003816.3(ADAM9):c.2146A>G (p.Ile716Val) rs1001016233
NM_003816.3(ADAM9):c.506A>G (p.Tyr169Cys) rs886062923
NM_003816.3(ADAM9):c.681G>T (p.Met227Ile) rs1588343524

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