ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000191.3(HMGCL):c.876+1G>C rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000440.3(PDE6A):c.2027+2T>G rs1259637349
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs) rs2067185505
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001370658.1(BTD):c.249+1G>A rs373249212
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) rs753747821
NM_016247.4(IMPG2):c.1240-2A>G rs1706475153
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.616del (p.His206fs) rs1183979115
NM_153006.3(NAGS):c.1096+2T>G rs2049097522
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_177965.4(CFAP418):c.363del (p.Asn121fs) rs1811856716

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