ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017

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