ClinVar Miner

List of variants in gene LRIT3 reported as uncertain significance for inherited retinal dystrophy

Included ClinVar conditions (419):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.222G>A (p.Ala74=) rs148450929 0.00264
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro) rs138218384 0.00076
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val) rs182054858 0.00058
NM_198506.5(LRIT3):c.*1157T>C rs572997541 0.00034
NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile) rs199662798 0.00025
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.1307T>C (p.Met436Thr) rs371356043 0.00015
NM_198506.5(LRIT3):c.*1322T>C rs146584985 0.00014
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=) rs528069315 0.00014
NM_198506.5(LRIT3):c.*1108A>G rs749828551 0.00013
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) rs538101562 0.00012
NM_198506.5(LRIT3):c.*1191T>C rs574005997 0.00008
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.1157T>G (p.Leu386Arg) rs151283521 0.00002
NM_198506.5(LRIT3):c.332G>A (p.Arg111His) rs867751556 0.00002
NM_198506.5(LRIT3):c.966C>T (p.Asp322=) rs141753583 0.00002
NM_198506.5(LRIT3):c.99T>C (p.Asn33=) rs1054476083 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.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.848C>T (p.Pro283Leu) rs886058985 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.*959C>T rs954666885
NM_198506.5(LRIT3):c.1015G>T (p.Ala339Ser)
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.1752_1754del (p.Leu585del) rs145776307
NM_198506.5(LRIT3):c.342del (p.Asn115fs) rs1310606638
NM_198506.5(LRIT3):c.900A>G (p.Ile300Met) rs996641458

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