ClinVar Miner

List of variants in gene LRIT3 studied for congenital stationary night blindness

Included ClinVar conditions (26):
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Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) rs4698797 0.55919
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) rs764205 0.55477
NM_198506.5(LRIT3):c.*1194T>A rs56285361 0.04634
NM_198506.5(LRIT3):c.*962A>G rs10011256 0.01835
NM_198506.5(LRIT3):c.*232C>G rs116151046 0.00720
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met) rs116570736 0.00352
NM_198506.5(LRIT3):c.*1490T>C rs183244433 0.00317
NM_198506.5(LRIT3):c.222G>A (p.Ala74=) rs148450929 0.00264
NM_198506.5(LRIT3):c.158C>T (p.Thr53Met) rs181200721 0.00233
NM_198506.5(LRIT3):c.*389G>A rs139529995 0.00228
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_198506.5(LRIT3):c.*1267C>T rs190337829 0.00101
NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro) rs138218384 0.00086
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val) rs182054858 0.00063
NM_198506.5(LRIT3):c.1317G>A (p.Lys439=) rs189069580 0.00044
NM_198506.5(LRIT3):c.*683G>A rs564004924 0.00041
NM_198506.5(LRIT3):c.*1157T>C rs572997541 0.00034
NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala) rs75722024 0.00034
NM_198506.5(LRIT3):c.*1038C>T rs182511132 0.00021
NM_198506.5(LRIT3):c.1029G>T (p.Val343=) rs199943498 0.00021
NM_198506.5(LRIT3):c.30C>A (p.Val10=) rs373793629 0.00021
NM_198506.5(LRIT3):c.*626G>A rs550462658 0.00019
NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile) rs199662798 0.00019
NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr) rs371356043 0.00016
NM_198506.5(LRIT3):c.*1108A>G rs749828551 0.00014
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=) rs528069315 0.00014
NM_198506.5(LRIT3):c.*1322T>C rs146584985 0.00011
NM_198506.5(LRIT3):c.*1191T>C rs574005997 0.00008
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter) rs397509378 0.00006
NM_198506.5(LRIT3):c.327G>A (p.Glu109=) rs992042707 0.00006
NM_198506.5(LRIT3):c.492A>G (p.Arg164=) rs890325688 0.00006
NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg) rs145061437 0.00006
NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe) rs770968977 0.00004
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter) rs397509379 0.00003
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) rs538101562 0.00003
NM_198506.5(LRIT3):c.332G>A (p.Arg111His) rs867751556 0.00002
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) rs376610215 0.00002
NM_198506.5(LRIT3):c.*1516C>A rs886058987 0.00001
NM_198506.5(LRIT3):c.*82C>T rs942045086 0.00001
NM_198506.5(LRIT3):c.1018G>A (p.Val340Met) rs746795751 0.00001
NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg) rs151283521 0.00001
NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys) rs886058986 0.00001
NM_198506.5(LRIT3):c.1677G>A (p.Val559=) rs762638752 0.00001
NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr) rs550500577 0.00001
NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val) rs1195746556 0.00001
NM_198506.5(LRIT3):c.660C>T (p.Asp220=) rs761469951 0.00001
NM_198506.5(LRIT3):c.667A>G (p.Ile223Val) rs145327749 0.00001
NM_198506.5(LRIT3):c.966C>T (p.Asp322=) rs141753583 0.00001
NM_198506.5(LRIT3):c.*1070C>T rs1734844540
NM_198506.5(LRIT3):c.*1155G>A rs1214674799
NM_198506.5(LRIT3):c.*1182T>C rs1579384911
NM_198506.5(LRIT3):c.*258G>A rs1734822393
NM_198506.5(LRIT3):c.*303G>A rs556856274
NM_198506.5(LRIT3):c.*959C>T rs954666885
NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu) rs778238467
NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly) rs140494004
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380
NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs) rs1560588083
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter) rs2125900955
NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu) rs886058985
NM_198506.5(LRIT3):c.900A>G (p.Ile300Met) rs996641458
NM_198506.5(LRIT3):c.99T>C (p.Asn33=) rs1054476083

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