ClinVar Miner

List of variants in gene OPLAH reported as uncertain significance for 5-oxoprolinase deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg) rs11777194 0.00176
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00054
NM_017570.5(OPLAH):c.158G>A (p.Arg53His) rs370049811 0.00042
NM_017570.5(OPLAH):c.1039C>G (p.Leu347Val) rs181530163 0.00037
NM_017570.5(OPLAH):c.2693C>T (p.Thr898Met) rs199829912 0.00024
NM_017570.5(OPLAH):c.1424C>T (p.Ala475Val) rs374935079 0.00015
NM_017570.5(OPLAH):c.209A>C (p.Asp70Ala) rs371222393 0.00012
NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys) rs782533601 0.00011
NM_017570.5(OPLAH):c.1754C>T (p.Thr585Met) rs370157218 0.00010
NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr) rs370801470 0.00008
NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp) rs782702109 0.00008
NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln) rs554854985 0.00007
NM_017570.5(OPLAH):c.135C>T (p.Asp45=) rs373510142 0.00006
NM_017570.5(OPLAH):c.2273G>A (p.Arg758His) rs200773486 0.00006
NM_017570.5(OPLAH):c.1030G>A (p.Ala344Thr) rs199914741 0.00005
NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys) rs782130905 0.00005
NM_017570.5(OPLAH):c.271C>T (p.Arg91Trp) rs575947480 0.00005
NM_017570.5(OPLAH):c.1046T>G (p.Ile349Ser) rs782468679 0.00004
NM_017570.5(OPLAH):c.1438C>T (p.Pro480Ser) rs782479445 0.00003
NM_017570.5(OPLAH):c.1674T>G (p.Cys558Trp) rs1234462205 0.00003
NM_017570.5(OPLAH):c.646G>A (p.Val216Met) rs374238208 0.00003
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu) rs781785267 0.00003
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu) rs782808832 0.00002
NM_017570.5(OPLAH):c.1939G>A (p.Glu647Lys) rs371821782 0.00002
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) rs371837669 0.00002
NM_017570.5(OPLAH):c.2957C>T (p.Ser986Leu) rs1332726078 0.00002
NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys) rs568623659 0.00001
NM_017570.5(OPLAH):c.11C>T (p.Pro4Leu) rs1461320056 0.00001
NM_017570.5(OPLAH):c.1265C>T (p.Ala422Val) rs375526531 0.00001
NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr) rs781819330 0.00001
NM_017570.5(OPLAH):c.137C>T (p.Ala46Val) rs782757072 0.00001
NM_017570.5(OPLAH):c.1806G>A (p.Ser602=) rs782390629 0.00001
NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp) rs782125024 0.00001
NM_017570.5(OPLAH):c.2231G>A (p.Arg744His) rs565620541 0.00001
NM_017570.5(OPLAH):c.2302C>T (p.Arg768Cys) rs939343558 0.00001
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg) rs374235442 0.00001
NM_017570.5(OPLAH):c.290C>T (p.Ala97Val) rs781965027 0.00001
NM_017570.5(OPLAH):c.2927A>C (p.Gln976Pro) rs1235708168 0.00001
NM_017570.5(OPLAH):c.2973C>G (p.Asp991Glu) rs782051228 0.00001
NM_017570.5(OPLAH):c.2995C>G (p.Arg999Gly) rs1471350813 0.00001
NM_017570.5(OPLAH):c.3394G>A (p.Gly1132Arg) rs782653195 0.00001
NM_017570.5(OPLAH):c.3518G>T (p.Arg1173Leu) rs782094303 0.00001
NM_017570.5(OPLAH):c.104T>G (p.Leu35Arg)
NM_017570.5(OPLAH):c.1091C>G (p.Ser364Cys) rs980100537
NM_017570.5(OPLAH):c.1094G>C (p.Gly365Ala)
NM_017570.5(OPLAH):c.1114G>A (p.Glu372Lys)
NM_017570.5(OPLAH):c.1156G>T (p.Gly386Trp)
NM_017570.5(OPLAH):c.1199G>A (p.Arg400His)
NM_017570.5(OPLAH):c.1244A>C (p.Asn415Thr) rs2129817333
NM_017570.5(OPLAH):c.1258C>T (p.Pro420Ser) rs1564292461
NM_017570.5(OPLAH):c.1331C>T (p.Pro444Leu)
NM_017570.5(OPLAH):c.1347C>A (p.Ser449Arg)
NM_017570.5(OPLAH):c.1363A>G (p.Met455Val)
NM_017570.5(OPLAH):c.1376G>A (p.Arg459His)
NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser) rs782662415
NM_017570.5(OPLAH):c.1409G>A (p.Arg470His)
NM_017570.5(OPLAH):c.1414C>T (p.Leu472Phe)
NM_017570.5(OPLAH):c.1418C>T (p.Thr473Met)
NM_017570.5(OPLAH):c.1513A>G (p.Met505Val)
NM_017570.5(OPLAH):c.1527C>T (p.His509=)
NM_017570.5(OPLAH):c.1535+3G>T
NM_017570.5(OPLAH):c.1561G>A (p.Gly521Arg)
NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys) rs200381383
NM_017570.5(OPLAH):c.1600C>T (p.Pro534Ser)
NM_017570.5(OPLAH):c.1652T>G (p.Leu551Arg) rs2129808075
NM_017570.5(OPLAH):c.1658G>A (p.Arg553His)
NM_017570.5(OPLAH):c.1667A>G (p.Glu556Gly)
NM_017570.5(OPLAH):c.1680T>G (p.Asp560Glu) rs1564291499
NM_017570.5(OPLAH):c.1690_1706+6dup
NM_017570.5(OPLAH):c.171+13G>A
NM_017570.5(OPLAH):c.172-5C>T
NM_017570.5(OPLAH):c.1731C>T (p.Phe577=)
NM_017570.5(OPLAH):c.1802G>A (p.Arg601His)
NM_017570.5(OPLAH):c.1845-20G>A
NM_017570.5(OPLAH):c.1862G>T (p.Gly621Val)
NM_017570.5(OPLAH):c.1880G>A (p.Arg627Gln)
NM_017570.5(OPLAH):c.1883C>T (p.Pro628Leu)
NM_017570.5(OPLAH):c.1897G>A (p.Asp633Asn)
NM_017570.5(OPLAH):c.193C>G (p.Arg65Gly) rs782494513
NM_017570.5(OPLAH):c.1963G>A (p.Gly655Arg)
NM_017570.5(OPLAH):c.1971C>T (p.Pro657=)
NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu) rs540750311
NM_017570.5(OPLAH):c.2097-20C>G
NM_017570.5(OPLAH):c.2238G>A (p.Met746Ile)
NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys) rs201623019
NM_017570.5(OPLAH):c.2281A>G (p.Ile761Val)
NM_017570.5(OPLAH):c.2338G>A (p.Gly780Arg)
NM_017570.5(OPLAH):c.2344C>A (p.Leu782Met)
NM_017570.5(OPLAH):c.235A>C (p.Met79Leu)
NM_017570.5(OPLAH):c.2510C>T (p.Pro837Leu)
NM_017570.5(OPLAH):c.2534G>A (p.Arg845Gln)
NM_017570.5(OPLAH):c.2534G>C (p.Arg845Pro)
NM_017570.5(OPLAH):c.2539G>A (p.Val847Met)
NM_017570.5(OPLAH):c.2588C>T (p.Thr863Ile)
NM_017570.5(OPLAH):c.2669G>C (p.Gly890Ala) rs781927871
NM_017570.5(OPLAH):c.2687C>T (p.Ala896Val)
NM_017570.5(OPLAH):c.2705G>A (p.Arg902Gln)
NM_017570.5(OPLAH):c.2728T>A (p.Cys910Ser) rs2129764172
NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys) rs147874057
NM_017570.5(OPLAH):c.2841C>T (p.Asp947=)
NM_017570.5(OPLAH):c.2872-4C>T
NM_017570.5(OPLAH):c.2905C>T (p.Arg969Cys)
NM_017570.5(OPLAH):c.2975A>C (p.Asp992Ala)
NM_017570.5(OPLAH):c.2981C>T (p.Ser994Phe)
NM_017570.5(OPLAH):c.3036C>T (p.Asp1012=)
NM_017570.5(OPLAH):c.3164C>T (p.Ala1055Val)
NM_017570.5(OPLAH):c.3254G>C (p.Arg1085Pro)
NM_017570.5(OPLAH):c.3278C>T (p.Ala1093Val)
NM_017570.5(OPLAH):c.3304-10C>T
NM_017570.5(OPLAH):c.3311T>C (p.Met1104Thr)
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln) rs1426386645
NM_017570.5(OPLAH):c.3362C>A (p.Ala1121Glu)
NM_017570.5(OPLAH):c.3461+15C>T
NM_017570.5(OPLAH):c.3512G>C (p.Arg1171Thr) rs2129743421
NM_017570.5(OPLAH):c.3518G>A (p.Arg1173His) rs782094303
NM_017570.5(OPLAH):c.3559C>T (p.Arg1187Cys)
NM_017570.5(OPLAH):c.35T>C (p.Ile12Thr) rs2129850356
NM_017570.5(OPLAH):c.363+3G>A
NM_017570.5(OPLAH):c.3640C>T (p.Arg1214Cys)
NM_017570.5(OPLAH):c.370C>T (p.Pro124Ser)
NM_017570.5(OPLAH):c.3721-12C>G
NM_017570.5(OPLAH):c.3745G>C (p.Gly1249Arg)
NM_017570.5(OPLAH):c.3823C>T (p.His1275Tyr)
NM_017570.5(OPLAH):c.415C>T (p.Arg139Cys)
NM_017570.5(OPLAH):c.463G>A (p.Gly155Ser)
NM_017570.5(OPLAH):c.466C>T (p.Arg156Cys)
NM_017570.5(OPLAH):c.491A>G (p.Gln164Arg)
NM_017570.5(OPLAH):c.533G>A (p.Gly178Glu)
NM_017570.5(OPLAH):c.553C>T (p.Arg185Cys)
NM_017570.5(OPLAH):c.554G>T (p.Arg185Leu)
NM_017570.5(OPLAH):c.567G>A (p.Val189=)
NM_017570.5(OPLAH):c.587+10G>A
NM_017570.5(OPLAH):c.718T>C (p.Tyr240His)
NM_017570.5(OPLAH):c.730G>A (p.Ala244Thr)
NM_017570.5(OPLAH):c.811G>A (p.Asp271Asn)
NM_017570.5(OPLAH):c.843C>G (p.Ser281Arg) rs549502677
NM_017570.5(OPLAH):c.859C>T (p.Leu287Phe)
NM_017570.5(OPLAH):c.863C>T (p.Ser288Leu)
NM_017570.5(OPLAH):c.869C>T (p.Pro290Leu)
NM_017570.5(OPLAH):c.874G>A (p.Gly292Ser)
NM_017570.5(OPLAH):c.928G>C (p.Val310Leu) rs782711808
NM_017570.5(OPLAH):c.934G>A (p.Gly312Ser)

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