ClinVar Miner

List of variants studied for classic organic aciduria by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) rs1591363795
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863

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