ClinVar Miner

List of variants studied for amino acid metabolism disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) rs201278558 0.00012
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His) rs964725459 0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter) rs121917747 0.00006
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) rs1242600175 0.00001
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) rs1592151654
NM_001330260.2(SCN8A):c.3942+248C>G
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_003038.5(SLC1A4):c.1035-381_1230-73del rs1553375174
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly) rs869312680
NM_003124.5(SPR):c.106G>A (p.Val36Met) rs869312688
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)

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