ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) rs769953411 0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu) rs775936961 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_002225.5(IVD):c.158T>C (p.Met53Thr) rs1890589984
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_003060.4(SLC22A5):c.394-141T>C rs1561566541
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350

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