ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00003
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NC_000012.12:g.(?_102894735)_(102894918_?)del
NM_000273.3(GPR143):c.548+2T>A rs2083438278
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000531.6(OTC):c.488T>A (p.Leu163Gln) rs2068486155
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter) rs2067562961
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001258392.3(CLPB):c.221dup (p.Gly76fs) rs2135181870
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
NM_001875.5(CPS1):c.1550-2A>C rs2105840261
NM_001875.5(CPS1):c.947+1G>A rs2106109125
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243

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