ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.971-12G>A rs375952052

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