ClinVar Miner

List of variants studied for amino acid metabolism disease by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_003124.5(SPR):c.262C>T (p.Arg88Trp) rs564501639 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_001698.3(AUH):c.505+1G>C rs773652620 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_004483.5(GCSH):c.1A>G (p.Met1Val) rs886039730 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.731-2A>G rs752216720
NM_000045.4(ARG1):c.547_549del (p.Asp183del) rs2114545947
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp) rs2144563979
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter) rs1970564149
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000277.3(PAH):c.210del (p.Arg71fs) rs2136701994
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His) rs137852870
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro) rs2125500236
NM_001698.3(AUH):c.556G>T (p.Gly186Cys) rs1040881767
NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_005957.5(MTHFR):c.1657G>T (p.Glu553Ter) rs2100499494
NM_005957.5(MTHFR):c.337G>T (p.Ala113Ser) rs147257424
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu) rs759563092
NM_016373.4(WWOX):c.172+5G>A
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) rs2136198139
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp) rs2151493922

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