ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met) rs141327098 0.00070
NM_001608.4(ACADL):c.799C>T (p.Arg267Trp) rs200297060 0.00044
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn) rs111253965 0.00041
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_005763.4(AASS):c.1048G>A (p.Val350Met) rs780164559 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035 0.00028
NM_000666.3(ACY1):c.1100G>A (p.Arg367His) rs201647575 0.00018
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp) rs138469955 0.00009
NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys) rs370093464 0.00006
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile) rs988176395 0.00004
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser) rs1487643005 0.00002
NM_000666.3(ACY1):c.1000A>T (p.Met334Leu) rs767883181 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys) rs773609274 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr) rs1280144449 0.00001
NM_018706.7(DHTKD1):c.2740C>G (p.Leu914Val) rs200646026 0.00001
NM_000045.4(ARG1):c.745G>C (p.Val249Leu) rs182650447
NM_000170.3(GLDC):c.1357G>T (p.Ala453Ser) rs1057515607
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) rs901169831
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala) rs146511220
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001698.3(AUH):c.419G>A (p.Gly140Asp) rs1829899485
NM_003060.4(SLC22A5):c.1537T>A (p.Phe513Ile) rs1752785458
NM_005763.4(AASS):c.1876A>G (p.Ile626Val) rs1793918338
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys) rs763567914
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599

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