ClinVar Miner

List of variants in gene SAG studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.1207G>A (p.Val403Ile) rs1046974 0.30851
NM_000541.5(SAG):c.489C>T (p.Ala163=) rs2304773 0.13074
NM_000541.5(SAG):c.1208T>C (p.Val403Ala) rs1046976 0.12771
NM_000541.5(SAG):c.226A>G (p.Ile76Val) rs7565275 0.06304
NM_000541.5(SAG):c.1047-13T>C rs73995909 0.03685
NM_000541.5(SAG):c.375+11C>T rs74356516 0.03568
NM_000541.5(SAG):c.321G>C (p.Leu107=) rs59676190 0.03222
NM_000541.5(SAG):c.201C>T (p.Cys67=) rs72976383 0.02235
NM_000541.5(SAG):c.*7C>T rs692 0.02006
NM_000541.5(SAG):c.*89C>T rs78338185 0.01526
NM_000541.5(SAG):c.93G>A (p.Gly31=) rs79063407 0.00807
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633 0.00530
NM_000541.5(SAG):c.231C>T (p.Asp77=) rs79922016 0.00524
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_000541.5(SAG):c.-69G>A rs189763324 0.00397
NM_000541.5(SAG):c.525A>G (p.Arg175=) rs199839554 0.00285
NM_000541.5(SAG):c.374C>T (p.Thr125Met) rs137886124 0.00247
NM_000541.5(SAG):c.588G>A (p.Ala196=) rs190853693 0.00217
NM_000541.5(SAG):c.-223C>G rs140569105 0.00170
NM_000541.5(SAG):c.420A>G (p.Pro140=) rs150046934 0.00141
NM_000541.5(SAG):c.31G>A (p.Glu11Lys) rs200078242 0.00129
NM_000541.5(SAG):c.*98G>A rs184255686 0.00048
NM_000541.5(SAG):c.473C>A (p.Thr158Lys) rs199537652 0.00034
NM_000541.5(SAG):c.1054G>A (p.Ala352Thr) rs201307508 0.00029
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) rs199798289 0.00019
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_000541.5(SAG):c.453T>G (p.Phe151Leu) rs770558895 0.00014
NM_000541.5(SAG):c.866C>T (p.Ala289Val) rs373460295 0.00009
NM_000541.5(SAG):c.298G>A (p.Ala100Thr) rs771117432 0.00008
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_000541.5(SAG):c.944+5G>A rs374048703 0.00007
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027 0.00006
NM_000541.5(SAG):c.838A>G (p.Lys280Glu) rs373986650 0.00006
NM_000541.5(SAG):c.*113C>T rs1055247940 0.00005
NM_000541.5(SAG):c.1103-2A>C rs748204331 0.00005
NM_000541.5(SAG):c.154G>C (p.Asp52His) rs200296556 0.00005
NM_000541.5(SAG):c.269C>G (p.Ser90Cys) rs531041701 0.00003
NM_000541.5(SAG):c.*20C>T rs756466617 0.00002
NM_000541.5(SAG):c.777C>T (p.Tyr259=) rs766104513 0.00002
NM_000541.5(SAG):c.820C>T (p.Pro274Ser) rs369789189 0.00002
NM_000541.5(SAG):c.875G>A (p.Arg292Gln) rs554322769 0.00002
NM_000541.5(SAG):c.-11G>A rs754551985 0.00001
NM_000541.5(SAG):c.-28-10A>G rs1462642188 0.00001
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001
NM_000541.5(SAG):c.75+7G>T rs753990994 0.00001
NM_000541.5(SAG):c.778G>A (p.Val260Ile) rs1443433091 0.00001
NM_000541.4:c.513_806del
NM_000541.5(SAG):c.*90G>A rs143418950
NM_000541.5(SAG):c.136+2T>G rs1233480483
NM_000541.5(SAG):c.435+1G>A rs750740193
NM_000541.5(SAG):c.72_75+15del rs771810575
NM_000541.5(SAG):c.733G>A (p.Val245Met)
NM_000541.5(SAG):c.793A>G (p.Met265Val) rs781755716
NM_000541.5(SAG):c.806+4A>G rs749633616
NM_000541.5(SAG):c.916G>T (p.Glu306Ter) rs397514682
NM_000541.5(SAG):c.926del (p.Asn309fs) rs587776778

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