ClinVar Miner

List of variants studied for amino acid metabolism disease by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150= (p.Ser384=) rs12021720 0.12900
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000353.3(TAT):c.863_874del (p.Arg288_Trp291del) rs1567590737
NM_000360.4(TH):c.714_715del (p.Leu239fs) rs1564918287
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001918.5(DBT):c.367_372del (p.Tyr123_Asn124del) rs1557956585
NM_003124.5(SPR):c.291_293del (p.Ile98del) rs1559048107
NM_005957.5(MTHFR):c.1267dup (p.Glu423fs) rs1557761665

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