ClinVar Miner

List of variants reported as uncertain significance for 5-Oxoprolinase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 24
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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.158G>A (p.Arg53His) rs370049811 0.00042
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.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.646G>A (p.Val216Met) rs374238208 0.00003
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu) rs782808832 0.00002
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) rs371837669 0.00002
NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys) rs568623659 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.1909C>T (p.Arg637Trp) rs782125024 0.00001
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg) rs374235442 0.00001
NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser) rs782662415
NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys) rs200381383
NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu) rs540750311
NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys) rs201623019
NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys) rs147874057

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