ClinVar Miner

List of variants reported as likely pathogenic for primary Fanconi syndrome by Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001966.4(EHHADH):c.673C>G (p.Pro225Ala)	rs762656795	0.00001
NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg)	rs770557903	0.00001
NM_001482.3(GATM):c.259T>C (p.Cys87Arg)	rs2140657166

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