ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by New York Genome Center

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met) rs140355579 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001609.4(ACADSB):c.682-349C>A rs1850491397
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_032861.4(SERAC1):c.1027A>T (p.Ile343Phe) rs1784395214

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