ClinVar Miner

List of variants in gene OPLAH reported as likely benign for 5-oxoprolinase deficiency

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=) rs61740339 0.00958
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) rs185836803 0.00867
NM_017570.5(OPLAH):c.3720+8C>T rs374770909 0.00674
NM_017570.5(OPLAH):c.171+6C>A rs117389174 0.00370
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) rs145079111 0.00324
NM_017570.5(OPLAH):c.2792A>G (p.Gln931Arg) rs200702041 0.00262
NM_017570.5(OPLAH):c.949+12G>A rs142819774 0.00156
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=) rs186192116 0.00142
NM_017570.5(OPLAH):c.154C>T (p.Arg52Cys) rs182298526 0.00140
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=) rs370115329 0.00121
NM_017570.5(OPLAH):c.1318A>G (p.Asn440Asp) rs200098915 0.00111
NM_017570.5(OPLAH):c.2097-8C>T rs376189869 0.00099
NM_017570.5(OPLAH):c.1918G>A (p.Gly640Ser) rs201454549 0.00095
NM_017570.5(OPLAH):c.1501C>T (p.Arg501Trp) rs147294871 0.00078
NM_017570.5(OPLAH):c.1933C>T (p.Arg645Cys) rs201475103 0.00056
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00054
NM_017570.5(OPLAH):c.2096+8G>A rs372984548 0.00053
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=) rs372144482 0.00047
NM_017570.5(OPLAH):c.36C>T (p.Ile12=) rs532622317 0.00045
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val) rs202100905 0.00027
NM_017570.5(OPLAH):c.145G>A (p.Glu49Lys) rs782616822 0.00026
NM_017570.5(OPLAH):c.573C>G (p.Leu191=) rs375794631 0.00025
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=) rs373638784 0.00020
NM_017570.5(OPLAH):c.3808C>T (p.Leu1270=) rs776933028 0.00015
NM_017570.5(OPLAH):c.3820G>A (p.Glu1274Lys) rs371840526 0.00014
NM_017570.5(OPLAH):c.714C>T (p.Asp238=) rs372974283 0.00014
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=) rs373169020 0.00011
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=) rs201482072 0.00010
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=) rs369897941 0.00006
NM_017570.5(OPLAH):c.3019-11G>A rs562417499 0.00006
NM_017570.5(OPLAH):c.2367C>T (p.Ile789=) rs1304694945 0.00005
NM_017570.5(OPLAH):c.2512-6C>T rs532077880 0.00004
NM_017570.5(OPLAH):c.463+15G>A rs369287805 0.00004
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=) rs782559583 0.00003
NM_017570.5(OPLAH):c.1300G>A (p.Val434Ile) rs536115347 0.00002
NM_017570.5(OPLAH):c.187C>T (p.Leu63=) rs782424960 0.00002
NM_017570.5(OPLAH):c.1884G>A (p.Pro628=) rs373083081 0.00002
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=) rs782608385 0.00001
NM_017570.5(OPLAH):c.210C>T (p.Asp70=) rs781951821 0.00001
NM_017570.5(OPLAH):c.672C>T (p.Pro224=) rs368105559 0.00001
NM_017570.5(OPLAH):c.816C>T (p.Gly272=) rs533428247 0.00001
NM_017570.5(OPLAH):c.861C>T (p.Leu287=) rs781841221 0.00001
NM_017570.5(OPLAH):c.1137A>G (p.Gly379=)
NM_017570.5(OPLAH):c.1140C>T (p.Pro380=)
NM_017570.5(OPLAH):c.1149C>T (p.Tyr383=)
NM_017570.5(OPLAH):c.1156+15C>T
NM_017570.5(OPLAH):c.1278C>T (p.Ala426=)
NM_017570.5(OPLAH):c.1377C>T (p.Arg459=)
NM_017570.5(OPLAH):c.1422+16C>T
NM_017570.5(OPLAH):c.1431C>T (p.Gly477=)
NM_017570.5(OPLAH):c.1455G>A (p.Leu485=)
NM_017570.5(OPLAH):c.147A>G (p.Glu49=) rs2129848675
NM_017570.5(OPLAH):c.1521G>A (p.Thr507=)
NM_017570.5(OPLAH):c.1535+16G>A
NM_017570.5(OPLAH):c.1584G>A (p.Val528=)
NM_017570.5(OPLAH):c.171+12C>T
NM_017570.5(OPLAH):c.1824C>T (p.Phe608=)
NM_017570.5(OPLAH):c.1843C>T (p.Arg615Trp)
NM_017570.5(OPLAH):c.1844+18T>G
NM_017570.5(OPLAH):c.1844+8G>C
NM_017570.5(OPLAH):c.1924A>T (p.Ser642Cys)
NM_017570.5(OPLAH):c.1962C>T (p.Thr654=) rs782092076
NM_017570.5(OPLAH):c.2004G>A (p.Glu668=)
NM_017570.5(OPLAH):c.2007G>C (p.Gly669=)
NM_017570.5(OPLAH):c.2043G>A (p.Glu681=)
NM_017570.5(OPLAH):c.204G>A (p.Pro68=)
NM_017570.5(OPLAH):c.2096+15G>A
NM_017570.5(OPLAH):c.2190C>T (p.Gly730=)
NM_017570.5(OPLAH):c.2232C>G (p.Arg744=)
NM_017570.5(OPLAH):c.2248+11G>A
NM_017570.5(OPLAH):c.2334C>T (p.Pro778=)
NM_017570.5(OPLAH):c.2442C>T (p.Gly814=)
NM_017570.5(OPLAH):c.2454G>T (p.Leu818=)
NM_017570.5(OPLAH):c.2512-19G>A
NM_017570.5(OPLAH):c.2512-5G>A
NM_017570.5(OPLAH):c.2514G>A (p.Val838=)
NM_017570.5(OPLAH):c.2665G>A (p.Gly889Arg)
NM_017570.5(OPLAH):c.2733C>T (p.Ser911=)
NM_017570.5(OPLAH):c.2871+13A>C
NM_017570.5(OPLAH):c.2952G>A (p.Val984=)
NM_017570.5(OPLAH):c.2989C>T (p.Arg997Cys) rs200620019
NM_017570.5(OPLAH):c.3019-14C>T
NM_017570.5(OPLAH):c.3117G>T (p.Leu1039=)
NM_017570.5(OPLAH):c.3154-12C>T
NM_017570.5(OPLAH):c.3154-20G>T
NM_017570.5(OPLAH):c.3177G>C (p.Val1059=)
NM_017570.5(OPLAH):c.3304-11G>A
NM_017570.5(OPLAH):c.3327G>A (p.Leu1109=)
NM_017570.5(OPLAH):c.3372G>A (p.Ala1124=)
NM_017570.5(OPLAH):c.3461+17G>A
NM_017570.5(OPLAH):c.3462-4G>A
NM_017570.5(OPLAH):c.3516C>A (p.Gly1172=)
NM_017570.5(OPLAH):c.3558T>C (p.Phe1186=)
NM_017570.5(OPLAH):c.3623-13C>G
NM_017570.5(OPLAH):c.3717C>T (p.Pro1239=)
NM_017570.5(OPLAH):c.3721-13C>T rs782765595
NM_017570.5(OPLAH):c.3721-15C>A
NM_017570.5(OPLAH):c.3721-16C>G rs566592895
NM_017570.5(OPLAH):c.3721-20_3721-18del rs782715961
NM_017570.5(OPLAH):c.3721-20_3721-19del rs781891990
NM_017570.5(OPLAH):c.3753T>C (p.Gly1251=) rs1587548662
NM_017570.5(OPLAH):c.378T>G (p.Pro126=) rs1587567078
NM_017570.5(OPLAH):c.3822G>A (p.Glu1274=)
NM_017570.5(OPLAH):c.3831C>T (p.Ser1277=)
NM_017570.5(OPLAH):c.447C>T (p.Thr149=)
NM_017570.5(OPLAH):c.453G>A (p.Thr151=)
NM_017570.5(OPLAH):c.463+14C>T
NM_017570.5(OPLAH):c.501G>T (p.Val167=)
NM_017570.5(OPLAH):c.540A>G (p.Leu180=)
NM_017570.5(OPLAH):c.654G>A (p.Leu218=)
NM_017570.5(OPLAH):c.684C>T (p.Ile228=)
NM_017570.5(OPLAH):c.702G>A (p.Thr234=)
NM_017570.5(OPLAH):c.744C>T (p.Tyr248=)
NM_017570.5(OPLAH):c.783+14G>C
NM_017570.5(OPLAH):c.784-20C>T
NM_017570.5(OPLAH):c.784-9C>T
NM_017570.5(OPLAH):c.810C>T (p.Ser270=)
NM_017570.5(OPLAH):c.843C>T (p.Ser281=)
NM_017570.5(OPLAH):c.864G>A (p.Ser288=)
NM_017570.5(OPLAH):c.870G>A (p.Pro290=)
NM_017570.5(OPLAH):c.876C>T (p.Gly292=)
NM_017570.5(OPLAH):c.902C>G (p.Thr301Ser)
NM_017570.5(OPLAH):c.950-17C>T
NM_017570.5(OPLAH):c.960G>T (p.Thr320=) rs375010602
NM_017570.5(OPLAH):c.988G>A (p.Glu330Lys)

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