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rs797044772

From SNPedia

ClinVar
Risk rs797044772(TTGTCGAGGTAAGTGT;TTGTCGAGGTAAGTGT)
Alt rs797044772(TTGTCGAGGTAAGTGT;TTGTCGAGGTAAGTGT)
Reference rs797044772(CAGA;CAGA)
Significance Probable-Pathogenic
Disease 3-methylcrotonyl CoA carboxylase 2 deficiency
Variation info
Gene MCCC2
CLNDBN 3-methylcrotonyl CoA carboxylase 2 deficiency
Reversed 0
HGVS NC_000005.9:g.70900228_70900231delCAGAinsTTGTCGAGGTAAGTGT
CLNSRC
CLNACC RCV000179521.1,