ClinVar Miner

List of variants in gene AGPS reported as likely benign for brain disorder

Included ClinVar conditions (1845):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_003659.4(AGPS):c.*1701T>C rs189318576 0.00996
NM_003659.4(AGPS):c.*385G>C rs114266155 0.00346
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_003659.4(AGPS):c.*5124C>T rs145417594 0.00286
NM_003659.4(AGPS):c.*4255T>G rs190967028 0.00272
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_003659.4(AGPS):c.951C>T (p.Arg317=) rs146526791 0.00021
NM_003659.4(AGPS):c.1797+11A>G rs375071040 0.00007
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003659.4(AGPS):c.*3073A>G rs532442888 0.00003
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) rs761638262 0.00003
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_003659.4(AGPS):c.*1713TGA[1] rs143451487
NM_003659.4(AGPS):c.*4660del rs144602349
NM_003659.4(AGPS):c.*5023C>A rs148879448
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_003659.4(AGPS):c.1233+13AT[7] rs200546003
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) rs1036071531

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