ClinVar Miner

List of variants reported as benign for formiminoglutamic aciduria

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_206965.2(FTCD):c.*108G>A rs12774 0.63657
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391 0.07442
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841 0.06786
NM_206965.2(FTCD):c.301G>A (p.Val101Met) rs61735836 0.05528
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850 0.03521
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
NM_206965.2(FTCD):c.906+15C>T rs76474184 0.01274
NM_206965.2(FTCD):c.919C>T (p.Leu307=) rs141103624 0.00600
NM_206965.2(FTCD):c.239-13C>T rs185291133 0.00599
NM_206965.2(FTCD):c.457-16G>A rs192895127 0.00528
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485 0.00366
NM_206965.2(FTCD):c.456+10C>G rs113169471 0.00166
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373 0.00152
NM_206965.2(FTCD):c.36G>A (p.Ser12=) rs150970653 0.00148
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) rs148920158 0.00115
NM_206965.2(FTCD):c.457-14G>A rs201867413 0.00093
NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln) rs79021510 0.00086
NM_206965.2(FTCD):c.239-16C>T rs376733737 0.00084
NM_206965.2(FTCD):c.192C>T (p.Asn64=) rs148787454 0.00059
NM_206965.2(FTCD):c.267C>T (p.Asp89=) rs370444672 0.00039
NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala) rs201828652 0.00031
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NM_206965.2(FTCD):c.368-15C>T rs368792878 0.00016
NM_206965.2(FTCD):c.477G>A (p.Ala159=) rs764924772 0.00006
NM_206965.2(FTCD):c.94G>T (p.Gly32Cys) rs573745632 0.00001
NM_206965.2(FTCD):c.1099-20dup rs541370678
NM_206965.2(FTCD):c.1287A>C (p.Thr429=)
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.1443+17del
NM_206965.2(FTCD):c.1443+4dup rs372045405
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.367+16dup rs746412155
NM_206965.2(FTCD):c.368-17G>A rs61688555
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) rs374724805

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