ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by DASA

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) rs147837686 0.00031
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) rs369428934 0.00001
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) rs758745099 0.00001
NM_000071.3(CBS):c.676G>A (p.Ala226Thr) rs763835246
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter) rs2152894046
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
NM_000531.6(OTC):c.131C>T (p.Thr44Ile) rs72554310
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) rs1306678453
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) rs1569539443

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