ClinVar Miner

List of variants reported as pathogenic for amino acid metabolism disease by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_004279.3(PMPCB):c.524G>A (p.Arg175His) rs200188353 0.00005
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807 0.00001
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112 0.00001
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp) rs1354126704 0.00001
NM_001002755.4(NFU1):c.545+5G>A rs756085990 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
NC_000001.11:g.29203234del rs1574315873
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr) rs1601552154
NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg) rs2135485868
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005518.4(HMGCS2):c.1017-2del rs1553240165
NM_005518.4(HMGCS2):c.772del (p.Ser258fs) rs1553240525
NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs) rs1060502808
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006915.3(RP2):c.450G>A (p.Trp150Ter) rs1924906177
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246

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