ClinVar Miner

List of variants studied for classic organic aciduria by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000060.2(BTD):c.[511G>A;1330G>C]
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.310T>C (p.Phe104Leu) rs397515741
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_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618

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