ClinVar Miner

List of variants reported as likely benign for amino acid metabolism disease by Counsyl

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000137.4(FAH):c.961-17G>A rs372657388 0.00133
NM_000277.3(PAH):c.969+7C>T rs80324017 0.00032
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000277.3(PAH):c.352+11G>C rs371926082 0.00006
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000277.3(PAH):c.169-42T>A rs281865459 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000277.3(PAH):c.1066-31G>A rs199475685
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000360.4(TH):c.90+26G>A rs191356744
NM_001918.5(DBT):c.52-48_52-45delinsTAC rs1553233176
NM_001918.5(DBT):c.641_643del (p.Gly214del) rs1553230840
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_183050.4(BCKDHB):c.951+27209A>G rs207467187
NM_183050.4(BCKDHB):c.952-16_952-15del rs890103324

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