ClinVar Miner

List of variants reported as likely benign for 5-oxoprolinase deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 24
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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.471G>A (p.Thr157=) rs145079111 0.00324
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.2097-8C>T rs376189869 0.00099
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.3821A>T (p.Glu1274Val) rs202100905 0.00027
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.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 0.00008
NM_017570.5(OPLAH):c.2512-6C>T rs532077880 0.00004
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=) rs782559583 0.00003
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=) rs782608385 0.00001
NM_017570.5(OPLAH):c.816C>T (p.Gly272=) rs533428247 0.00001
NM_017570.5(OPLAH):c.3721-16C>G rs566592895
NM_017570.5(OPLAH):c.3721-20_3721-18del rs782715961
NM_017570.5(OPLAH):c.960G>T (p.Thr320=) rs375010602

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