ClinVar Miner

List of variants studied for Leber congenital amaurosis 15

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472 0.88862
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_003322.6(TULP1):c.499+26C>T rs2273001 0.64980
NM_003322.6(TULP1):c.*318T>G rs1051952 0.58855
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_003322.6(TULP1):c.*268C>A rs114707578 0.03691
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076 0.03061
NM_003322.6(TULP1):c.499+12G>C rs185636479 0.00347
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) rs142641513 0.00121
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_003322.6(TULP1):c.249G>A (p.Ala83=) rs377105125 0.00029
NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) rs201070350 0.00028
NM_003322.6(TULP1):c.603G>A (p.Gly201=) rs117920214 0.00021
NM_003322.6(TULP1):c.771G>A (p.Thr257=) rs189081258 0.00016
NM_003322.6(TULP1):c.1152C>T (p.Asn384=) rs371436525 0.00013
NM_003322.6(TULP1):c.541G>C (p.Val181Leu) rs576738703 0.00013
NM_003322.6(TULP1):c.148del (p.Glu50fs) rs779910894 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003322.6(TULP1):c.1169G>A (p.Arg390His) rs139402633 0.00009
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) rs781650198 0.00009
NM_003322.6(TULP1):c.*305G>A rs149035389 0.00008
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) rs145518705 0.00006
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) rs757725696 0.00005
NM_003322.6(TULP1):c.1495+3G>A rs758668547 0.00004
NM_003322.6(TULP1):c.457G>A (p.Ala153Thr) rs145351282 0.00004
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) rs140460892 0.00004
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_003322.6(TULP1):c.1112+8T>C rs1286919081 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_003322.6(TULP1):c.1563G>A (p.Pro521=) rs1031077618 0.00002
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) rs748334290 0.00002
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) rs1469121973 0.00002
NM_003322.6(TULP1):c.719G>A (p.Gly240Asp) rs773120841 0.00002
NM_003322.6(TULP1):c.823-8G>A rs372183095 0.00002
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) rs148838796 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_003322.6(TULP1):c.100C>T (p.Arg34Ter) rs1331834680 0.00001
NM_003322.6(TULP1):c.1025G>A (p.Arg342Gln) rs756856544 0.00001
NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) rs121909076 0.00001
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) rs748972748 0.00001
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) rs751589956 0.00001
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077 0.00001
NM_003322.6(TULP1):c.1522C>T (p.Arg508Cys) rs751036771 0.00001
NM_003322.6(TULP1):c.1569C>T (p.Cys523=) rs768536269 0.00001
NM_003322.6(TULP1):c.192T>C (p.Ala64=) rs886061337 0.00001
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) rs754040672 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003322.6(TULP1):c.904G>A (p.Gly302Ser) rs765321084 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NC_000006.12:g.35506278_35506281del rs2150925640
NM_003322.6(TULP1):c.*272C>G rs1231614922
NM_003322.6(TULP1):c.*278C>T rs886061335
NM_003322.6(TULP1):c.*31C>T rs886061336
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp) rs1761069157
NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter) rs767030473
NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr) rs201836697
NM_003322.6(TULP1):c.1081del (p.Arg361fs) rs1761067640
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) rs1761067394
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) rs387906837
NM_003322.6(TULP1):c.1112+2T>G rs1761066725
NM_003322.6(TULP1):c.1113-1G>T
NM_003322.6(TULP1):c.1113-9_1113delinsCATC rs2150924300
NM_003322.6(TULP1):c.1135T>C (p.Phe379Leu)
NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) rs387906836
NM_003322.6(TULP1):c.1204G>A (p.Glu402Lys) rs387906835
NM_003322.6(TULP1):c.1204G>T (p.Glu402Ter) rs387906835
NM_003322.6(TULP1):c.1258C>T (p.Arg420Cys) rs551519696
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) rs121909075
NM_003322.6(TULP1):c.139G>T (p.Glu47Ter) rs1761224205
NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) rs146311742
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.1475A>G (p.Gln492Arg)
NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) rs1581734819
NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs) rs2150921584
NM_003322.6(TULP1):c.1582_1587dup (p.Ala529_Ile530insPheAla) rs2150921548
NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln) rs1768748235
NM_003322.6(TULP1):c.1612A>G (p.Lys538Glu) rs1768748235
NM_003322.6(TULP1):c.162dup (p.Thr55fs)
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) rs1244588827
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) rs886061338
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) rs749882966
NM_003322.6(TULP1):c.568G>T (p.Glu190Ter) rs1761161294
NM_003322.6(TULP1):c.647C>T (p.Ala216Val) rs754221623
NM_003322.6(TULP1):c.718+2T>C rs1581742970
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) rs2150926986
NM_003322.6(TULP1):c.794del (p.Lys265fs) rs1581742615
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_003322.6(TULP1):c.823-17G>C rs12215920
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_003322.6(TULP1):c.999+5G>A rs2150925392
NM_006445.4(PRPF8):c.5619+2T>C rs1911406583

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