ClinVar Miner

List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (324):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_001122633.3(CPS1):c.-16+12G>A rs17552879 0.43006
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023 0.00295
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808 0.00217
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081 0.00021
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_181507.2(HPS5):c.240C>T (p.Val80=) rs138423875 0.00006
NM_000081.4(LYST):c.8607A>G (p.Gln2869=) rs369484787 0.00004
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001931.4(DLAT):c.381+22delT rs5794771

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