ClinVar Miner

List of variants reported as benign for 5-oxoprolinase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=) rs11136253 0.99656
NM_017570.5(OPLAH):c.850A>C (p.Ser284Arg) rs3935209 0.21869
NM_017570.5(OPLAH):c.1836T>C (p.Phe612=) rs11993554 0.15837
NM_017570.5(OPLAH):c.12C>G (p.Pro4=) rs7003860 0.14109
NM_017570.5(OPLAH):c.92G>A (p.Arg31Gln) rs7004867 0.08180
NM_017570.5(OPLAH):c.222C>T (p.Ile74=) rs6558292 0.06128
NM_017570.5(OPLAH):c.1578C>T (p.Asp526=) rs72695427 0.05544
NM_017570.5(OPLAH):c.1018G>A (p.Val340Ile) rs55916375 0.05428
NM_017570.5(OPLAH):c.2151C>T (p.Ile717=) rs115894989 0.05162
NM_017570.5(OPLAH):c.2636C>T (p.Ala879Val) rs61743013 0.04434
NM_017570.5(OPLAH):c.3721-20del rs148937107 0.03336
NM_017570.5(OPLAH):c.2832C>T (p.Tyr944=) rs61732533 0.03206
NM_017570.5(OPLAH):c.3462-9C>T rs148291810 0.02230
NM_017570.5(OPLAH):c.1750G>T (p.Gly584Cys) rs10107332 0.01535
NM_017570.5(OPLAH):c.1375C>T (p.Arg459Cys) rs117057524 0.01100
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.1502G>A (p.Arg501Gln) rs78071726 0.00484
NM_017570.5(OPLAH):c.805C>T (p.Arg269Cys) rs201078986 0.00434
NM_017570.5(OPLAH):c.402G>A (p.Leu134=) rs200748510 0.00423
NM_017570.5(OPLAH):c.443G>C (p.Gly148Ala) rs111254751 0.00403
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) rs145079111 0.00324
NM_017570.5(OPLAH):c.1921C>T (p.Arg641Cys) rs150735438 0.00296
NM_017570.5(OPLAH):c.2163G>T (p.Val721=) rs369464657 0.00294
NM_017570.5(OPLAH):c.1633G>A (p.Val545Met) rs116776822 0.00272
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.2346G>T (p.Leu782=) rs370115329 0.00121
NM_017570.5(OPLAH):c.1089-5C>T rs77001213 0.00106
NM_017570.5(OPLAH):c.2097-8C>T rs376189869 0.00099
NM_017570.5(OPLAH):c.2523G>A (p.Pro841=) rs187500280 0.00073
NM_017570.5(OPLAH):c.2512-7C>A rs541135459 0.00050
NM_017570.5(OPLAH):c.1973G>T (p.Arg658Leu) rs148181675 0.00036
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val) rs202100905 0.00027
NM_017570.5(OPLAH):c.2048G>T (p.Gly683Val) rs559740801 0.00024
NM_017570.5(OPLAH):c.734T>C (p.Ile245Thr) rs556057842 0.00017
NM_017570.5(OPLAH):c.2568C>T (p.His856=) rs377155890 0.00009
NM_017570.5(OPLAH):c.1128C>G (p.Ala376=) rs782052817 0.00002
NM_017570.5(OPLAH):c.1050C>T (p.Asn350=)
NM_017570.5(OPLAH):c.1113C>T (p.Pro371=)
NM_017570.5(OPLAH):c.1156+4A>G
NM_017570.5(OPLAH):c.1320C>T (p.Asn440=)
NM_017570.5(OPLAH):c.1845-14C>T
NM_017570.5(OPLAH):c.2722C>T (p.Pro908Ser)
NM_017570.5(OPLAH):c.3018+18T>C
NM_017570.5(OPLAH):c.3165G>A (p.Ala1055=) rs28428956
NM_017570.5(OPLAH):c.3303+9G>T
NM_017570.5(OPLAH):c.3508G>A (p.Gly1170Ser)
NM_017570.5(OPLAH):c.3721-11del
NM_017570.5(OPLAH):c.3721-11dup rs782568024
NM_017570.5(OPLAH):c.3721-16C>G rs566592895
NM_017570.5(OPLAH):c.3721-20G>C rs28433482
NM_017570.5(OPLAH):c.711C>T (p.Ala237=)

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