ClinVar Miner

List of variants studied for amino acid metabolism disease by GenomeConnect, ClinGen

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) rs138675420 0.00118
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) rs144994895 0.00087
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 0.00001
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=) rs775323670 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
GRCh37/hg19 2q13(chr2:112658687-112833108)x1
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_001080.3(ALDH5A1):c.498G>T (p.Trp166Cys) rs1759244067
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001379270.1(CNGA1):c.1570G>C (p.Ala524Pro) rs373946784
NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) rs786205865
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter) rs1064795098
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn) rs747844549
NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter) rs1554671322
NM_016011.4(MECR):c.-39G>C rs749435497
NM_020686.6(ABAT):c.448-1G>T rs1555491838
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu) rs376922578
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060

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