ClinVar Miner

List of variants studied for classic organic aciduria by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter) rs750583669 0.00001
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001
NM_000255.4(MMUT):c.-39-2A>G rs1767786464
NM_000255.4(MMUT):c.1102del (p.Val368fs) rs1767558588
NM_000255.4(MMUT):c.1107dup (p.Thr370fs) rs1767558268
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter) rs1767549304
NM_000255.4(MMUT):c.1560+2T>C rs1767442652
NM_000255.4(MMUT):c.1581dup (p.Ala528fs) rs1767368923
NM_000255.4(MMUT):c.1645del (p.Leu549fs) rs1767365298
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val) rs1289671563
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg) rs1767289269
NM_000255.4(MMUT):c.1787del (p.Glu596fs) rs1767284074
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.446dup (p.Asp149fs) rs1767737608
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu) rs764347583
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn) rs1767678885
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) rs1643667928
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502

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