ClinVar Miner

List of variants studied for Mitchell syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile) rs17855420 0.00043
NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg) rs756260598 0.00013
NM_004035.7(ACOX1):c.1469G>A (p.Arg490His) rs762956777 0.00001
NM_004035.7(ACOX1):c.538+1G>A rs1466419887 0.00001
NM_004035.7(ACOX1):c.1299-1G>C
NM_004035.7(ACOX1):c.1654C>T (p.Gln552Ter)
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004035.7(ACOX1):c.260G>A (p.Trp87Ter)
NM_004035.7(ACOX1):c.430+1G>A
NM_004035.7(ACOX1):c.442C>T (p.Arg148Ter) rs118204093
NM_004035.7(ACOX1):c.692G>T (p.Gly231Val)
NM_004035.7(ACOX1):c.748G>T (p.Glu250Ter)

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